Nomenclature changed (HGVS) see reference sequence for details. See legend at the bottom of the page.
LOVD - Variant listings for MUTYH

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?/? 00 c.-216-3949T>C p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 625/2520=24.8% DNA leukocyte Allelic discrimination test known variant (group) - - - - - cancer, prostate M - 455 US - - - - - - - - 455/1260 (36.1%) heterozygotes among Caucasian prostate cancer patients (85 homozygotes)
?/? 00 c.-216-3949T>C
    + c.-216-3949T>C
p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 625/2520=24.8% DNA leukocyte Allelic discrimination test known variant (group) - - - - - cancer, prostate M - 85 US - - - - - - - - 85/1260 (6.8%) homozygotes among Caucasian prostate cancer patients (455 heterozygotes)
?/? 00 c.-216-3949T>C
    + c.-216-3949T>C
p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 625/2520=24.8% DNA leukocyte Allelic discrimination test known variant (group) - - - - - cancer, prostate M - 85 US - - - - - - - - 85/1260 (6.8%) homozygotes among Caucasian prostate cancer patients (455 heterozygotes)
?/? 00 c.-216-3949T>C p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 151/290=52.1% DNA leukocyte Allelic discrimination test known variant (group) - - - - - cancer, prostate M - 71 US - - - - - - - - 71/145 (49.0%) heterozygotes among African-American prostate cancer patients (40 homozygotes)
?/? 00 c.-216-3949T>C
    + c.-216-3949T>C
p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 151/290=52.1% DNA leukocyte Allelic discrimination test known variant (group) - - - - - cancer, prostate M - 40 US - - - - - - - - 40/145 (27.6%) homozygotes among African-American prostate cancer patients (71 heterozygotes)
?/? 00 c.-216-3949T>C
    + c.-216-3949T>C
p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 151/290=52.1% DNA leukocyte Allelic discrimination test known variant (group) - - - - - cancer, prostate M - 40 US - - - - - - - - 40/145 (27.6%) homozygotes among African-American prostate cancer patients (71 heterozygotes)
?/? 00 c.-216-3949T>C p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 637/2494=25.5% DNA leukocyte Allelic discrimination test known variant (group) - - - - - control M - 485 US - - - - - - - - 485/1247 (38.9%) heterozygotes among Caucasian controls (76 homozygotes)
?/? 00 c.-216-3949T>C
    + c.-216-3949T>C
p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 637/2494=25.5% DNA leukocyte Allelic discrimination test known variant (group) - - - - - control M - 76 US - - - - - - - - 76/1247 (6.1%) homozygotes among Caucasian controls (485 heterozygotes)
?/? 00 c.-216-3949T>C
    + c.-216-3949T>C
p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 637/2494=25.5% DNA leukocyte Allelic discrimination test known variant (group) - - - - - control M - 76 US - - - - - - - - 76/1247 (6.1%) homozygotes among Caucasian controls (485 heterozygotes)
?/? 00 c.-216-3949T>C p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 78/158=49.4% DNA leukocyte Allelic discrimination test known variant (group) - - - - - control M - 32 US - - - - - - - - 32/79 (40.5%) heterozygotes among African-American controls (23 homozygotes)
?/? 00 c.-216-3949T>C
    + c.-216-3949T>C
p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 78/158=49.4% DNA leukocyte Allelic discrimination test known variant (group) - - - - - control M - 23 US - - - - - - - - 23/79 (29.1%) homozygotes among African-American controls (32 heterozygotes)
?/? 00 c.-216-3949T>C
    + c.-216-3949T>C
p.(=) r.(=) Agalliu et al., 2009 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - 78/158=49.4% DNA leukocyte Allelic discrimination test known variant (group) - - - - - control M - 23 US - - - - - - - - 23/79 (29.1%) homozygotes among African-American controls (32 heterozygotes)
?/? 00 c.-216-3949T>C p.(=) r.(=) dbSNP-rs9429072 - - MUTYH_00039 substitution, base pair - NM_001128425.1(MUTYH): c.-216-3949T>C; NG_008189.1(MUTYH):g.1052T>C; NM_007170.2(TESK2):c.*421T>C; NT_032977.8:g.15782009A>G - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 00 c.-216-2721C>T p.(=) r.(=) Schafmayer et al., 2007 NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_00288 substitution, base pair - NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His Germline 93/2132 (4.4%) DNA, leukocyte Allelic discrimination Test known variant (group) - - - - - CRC - - 91 DE - - - - - - - - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous
?/? 00 c.-216-2721C>T
    + c.-216-2721C>T
p.(=) r.(=) Schafmayer et al., 2007 NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_00288 substitution, base pair - NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His Germline 93/2132 (4.4%) DNA, leukocyte Allelic discrimination Test known variant (group) - - - - - CRC - - 1 DE - - - - - - - - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous
?/? 00 c.-216-2721C>T
    + c.-216-2721C>T
p.(=) r.(=) Schafmayer et al., 2007 NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_00288 substitution, base pair - NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His Germline 93/2132 (4.4%) DNA, leukocyte Allelic discrimination Test known variant (group) - - - - - CRC - - 1 DE - - - - - - - - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous
?/? 00 c.-216-2721C>T p.(=) r.(=) Schafmayer et al., 2007 NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_00288 substitution, base pair - NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His Germline 68/1462 (4.7%) DNA, leukocyte Allelic discrimination Test known variant (group) - - - - - Control - - 62 DE - - - - - - - - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous
?/? 00 c.-216-2721C>T
    + c.-216-2721C>T
p.(=) r.(=) Schafmayer et al., 2007 NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_00288 substitution, base pair - NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His Germline 68/1462 (4.7%) DNA, leukocyte Allelic discrimination Test known variant (group) - - - - - Control - - 3 DE - - - - - - - - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous
?/? 00 c.-216-2721C>T
    + c.-216-2721C>T
p.(=) r.(=) Schafmayer et al., 2007 NT_032977.9:g.15780781G>A - MUTYH_00288 substitution, base pair - NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His Germline 68/1462 (4.7%) DNA, leukocyte Allelic discrimination Test known variant (group) - - - - - Control - - 3 DE - - - - - - - - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous
?/? 00 c.-216-2721C>T p.(=) r.(=) dbSNP-rs9429157 NT_032977.9:g.15780781G>A - MUTYH_00288 substitution, base pair - NT_032977.9:g.15780781G>A; NG_008189.1:g.2280C>T; NM_025077.3(TOE1):c.1022G>A; NP_079353.3(TOE1):p.Arg341His - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 00 c.-216-290G>A p.(=) r.(=) dbSNP-rs3219463 NG_008189.1:g.4711G>A; NM_025077.3:c.53-313C>T (TOE1 gene) - MUTYH_00244 substitution, base pair - - - 0.227-0.475 A DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 00 c.-216-64G>A
    + c.36+11C>T, c.1014G>C, c.1431G>C
p.(=) r.(=) Tao et al., 2008 c.-280G>A - MUTYH_00163 substitution, base pair - Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. - - DNA PCR - - - - - - CRC - - 78 JP - - - - - - - - 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8%
?/? 00 c.-216-64G>A
    + c.36+11C>T, c.1014G>C, c.1431G>C
p.(=) r.(=) Tao et al., 2008 c.-280G>A - MUTYH_00163 substitution, base pair - Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. - - DNA PCR - - - - - - control - - 64 JP - - - - - - - - 64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0%
?/? 00 c.-216-58G>A p.(=) r.(=) dbSNP-rs3219465 - - MUTYH_00228 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 00 c.-177C>T p.(=) r.(=) Clinical Genetics, LUMC, Leiden, NL - - MUTYH_00001 substitution, base pair - - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - - polyps F - 1 (NL) - - - - - - - Netherlands:Leiden -
?/? 00 c.-165C>T p.(=) r.(=) Peterlongo et al., 2006 - - MUTYH_00083 substitution, base pair - Frequency in 62 probands New York, 13 Milan, 5 Madrid - 1/160 alleles DNA, leukocyte SEQ (ex1-16) screen MUTYH gene (index) - - - - - polyps and/or CRC - - 1 US, ES, IT - - - - - - - - Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan
?/? 00 c.-127C>A p.(=) r.(=) dbSNP-rs3219466 - - MUTYH_00227 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 00 c.-127C>T p.(=) r.(=) http://egp.gs.washington.edu/data/mutyh/ - - MUTYH_00002 substitution, base pair - - - 0.02 DNA SEQ - - - - - - ? ? - 1 ? - - - - - - - - -
?/? 00 c.-127C>T p.(=) r.(=) dbSNP-rs3219466 - - MUTYH_00002 substitution, base pair - - - - DNA SEQ - - - - - - - ? - 1 ? - - - - - - - - -
?/? 00 c.-127C>T
    + c.1014G>C, c.1186+46G>A
p.(=) r.(=) Clinical Genetics, LUMC, Leiden, NL - - MUTYH_00002 substitution, base pair - - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - - cancer, breast F - 1 NL - - - - - - - Netherlands:Leiden -
?/? 00 c.-127C>T p.(=) r.(=) Peterlongo et al., 2006 - - MUTYH_00002 substitution, base pair - Frequency in 62 probands New York, 13 Milan, 5 Madrid - 4/160 alleles DNA, leukocyte SEQ (ex1-16) screen MUTYH gene (index) - - - - - polyps and/or CRC - - 4 US, ES, IT - - - - - - - - Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan
?/? 00 c.-127C>T p.(=) r.(=) Molecular Medicine, AUH, Skejby, Aarhus, DK - - MUTYH_00002 substitution, base pair - - - 6/230 DNA-l SEQ - - - - - - polyposis - - 6 DK - - - - - - - Denmark:8200 Aarhus N 6/115 polyposis and/or CRC patients heterozygous c.-127C>T; minor allele frequency 6/230
?/? 00 c.-127C>T
    + c.-127C>T
p.(=) r.(=) Zhang et al., 2006 - - MUTYH_00002 substitution, base pair - - Germline 102/3186 (3.2%) DNA, buccal cells Specific genotyping Test known variants (index) - - - - - cancer, breast F - 2 US - - - - - - - - 2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls
?/? 00 c.-127C>T
    + c.-127C>T
p.(=) r.(=) Zhang et al., 2006 - - MUTYH_00002 substitution, base pair - - Germline 102/3186 (3.2%) DNA, buccal cells Specific genotyping Test known variants (index) - - - - - cancer, breast F - 2 US - - - - - - - - 2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls
?/? 00 c.-127C>T p.(=) r.(=) Zhang et al., 2006 - - MUTYH_00002 substitution, base pair - - Germline 102/3186 (3.2%) DNA, buccal cells Specific genotyping Test known variants (index) - - - - - cancer, breast F - 98 US - - - - - - - - 98 (6.2%) heterozygotes among 1593 breast cancer patients; '96 (7.6%) heterozygotes among 1261 controls
?/? 00 c.-127C>T
    + c.-127C>T
p.(=) r.(=) Zhang et al., 2006 - - MUTYH_00002 substitution, base pair - - Germline 98/2522 (3.9%) DNA, buccal cells Specific genotyping Test known variants (index) - - - - - control F - 1 US - - - - - - - - 1 (0.08%) homozygote among 1261 controls; 2 (0.1%) homozygotes among 1593 breast cancer patients
?/? 00 c.-127C>T
    + c.-127C>T
p.(=) r.(=) Zhang et al., 2006 - - MUTYH_00002 substitution, base pair - - Germline 98/2522 (3.9%) DNA, buccal cells Specific genotyping Test known variants (index) - - - - - control F - 1 US - - - - - - - - 1 (0.08%) homozygote among 1261 controls; 2 (0.1%) homozygotes among 1593 breast cancer patients
?/? 00 c.-127C>T p.(=) r.(=) Zhang et al., 2006 - - MUTYH_00002 substitution, base pair - - Germline 98/2522 (3.9%) DNA, buccal cells Specific genotyping Test known variants (index) - - - - - control F - 96 US - - - - - - - - 96 (7.6%) heterozygotes among 1261 controls; 98 (6.2%) heterozygotes among 1593 breast cancer patients
?/? 00 c.-127C>T p.(=) r.(=) Figueroa et al., 2007 rs3219466; Ex1+8C>T - MUTYH_00002 substitution, base pair - - Germline 57/2180 (2.6%) DNA, leukocyte Allelic discrimination Test known variant (group) - - - - - cancer, bladder - - 55 ES - - - - - - - - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous
?/? 00 c.-127C>T
    + c.-127C>T
p.(=) r.(=) Figueroa et al., 2007 rs3219466; Ex1+8C>T - MUTYH_00002 substitution, base pair - - Germline 57/2180 (2.6%) DNA, leukocyte Allelic discrimination Test known variant (index) - - - - - cancer, bladder - - 1 ES - - - - - - - - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous
?/? 00 c.-127C>T
    + c.-127C>T
p.(=) r.(=) Figueroa et al., 2007 rs3219466; Ex1+8C>T - MUTYH_00002 substitution, base pair - - Germline 57/2180 (2.6%) DNA, leukocyte Allelic discrimination Test known variant (index) - - - - - cancer, bladder - - 1 ES - - - - - - - - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous
?/? 00 c.-127C>T p.(=) r.(=) Figueroa et al., 2007 rs3219466; Ex1+8C>T - MUTYH_00002 substitution, base pair - - Germline 50/2036 (2.5%) DNA, leukocyte Allelic discrimination Test known variant (group) - - - - - control - - 48 ES - - - - - - - - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous
?/? 00 c.-127C>T
    + c.-127C>T
p.(=) r.(=) Figueroa et al., 2007 rs3219466; Ex1+8C>T - MUTYH_00002 substitution, base pair - - Germline 50/2036 (2.5%) DNA, leukocyte Allelic discrimination Test known variant (index) - - - - - control - - 1 ES - - - - - - - - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous
?/? 00 c.-127C>T
    + c.-127C>T
p.(=) r.(=) Figueroa et al., 2007 rs3219466; Ex1+8C>T - MUTYH_00002 substitution, base pair - - Germline 50/2036 (2.5%) DNA, leukocyte Allelic discrimination Test known variant (index) - - - - - control - - 1 ES - - - - - - - - 1090 bladder cancer patients: 55 (5.0%) heterozygous c.-127C>T; 1 (0.1%) homozygous; 1018 controls: 48 (4.7%) heterozygous; 1 (0.1%) homozygous
?/? 00 c.-83G>A p.(=) r.(=) dbSNP-rs28372898 - - MUTYH_00229 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 00 c.-56G>C p.(=) r.(=) Gómez-Fernández et al., 2009 - - MUTYH_00011 substitution, base pair - new in this paper; not in 500 control chromosomes ? - DNA, leukocyte SEQ, SSCP or Taqman 4 variants screen MUTYH gene (index) - - - - - (A)FAP - - 1 ES Unknown - - - - - - - -
-/? 01 c.8C>T p.(Pro3Leu) r.(=) MGZ, München, DE - - MUTYH_00178 substitution, base pair - - - - DNA SEQ - - - - - - ? - - 1 (DE) - - - - - - - German HNPCC Consortium - Munich -
?/? 01 c.20G>A
    + c.1187G>A
p.(Arg7His) r.(20g>a) Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK c.20G>A p.(Arg7His) MUTYH_00256 substitution, base pair missense - - - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - - ? - - 1 DK - - - - - - - Denmark:Hvidovre -
+/? 01i c.36+1G>A p.? r.(1_36del); r.(spl?) Redeker (unpublished); AMC, Amsterdam, NL - - MUTYH_00224 substitution, base pair splice mutation Alamut: affects donor splice site intron 1; skip exon 1 very likely; first ATG of alpha transcript in exon 1; two alternative ATG codons in exon 2 (beta + gamma transcripts) and 4 (beta4 + gamma4); effect on alpha transript difficult to predict. ? (unknown) - DNA SEQ - - - - - - polyposis M - 1 NL attenuated - - - - - - Netherlands:1100 DD Amsterdam -
?/? 01i c.36+1G>A p.? r.(1_36del); r.(spl?) Niessen et al. 2006 - - MUTYH_00224 substitution, base pair splice mutation MSH2: c.1729T>C Germline - DNA, leukocyte DGGE, SEQ Screen MUTYH gene (index) - - - - - CRC - - 1 NL - - - ACII neg MLH1/MSH2/MSH6 -/+/+ MSI-L family history - - 40 CRC/endometrial cancer patients with truncating MMR mutation (group I); 36 missense (group II). 134 similar patients without MMR mutation (0.7%); I: one monoallelic MUTYH (2.5%); group II: five monoallelic (14%),
?/? 01i c.36+11C>T p.(=) r.(=) Clinical Genetics, LUMC, Leiden, NL - - MUTYH_00003 substitution, base pair - - Germline - DNA, leukocyte SEQ Screen MUTYH gene (index) - - - - - duodenal cancer M - 1 (NL) - - - - - - - Netherlands:Leiden -
?/? 01i c.36+11C>T
    + c.-216-64G>A, c.1014G>C, c.1431G>C
p.(=) r.(=) Tao et al., 2008 - - MUTYH_00003 substitution, base pair - - - - DNA PCR - - - - - - CRC - - 78 JP - - - - - - - - 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8%
?/? 01i c.36+11C>T
    + c.-216-64G>A, c.1014G>C, c.1431G>C
p.(=) r.(=) Tao et al., 2008 - - MUTYH_00003 substitution, base pair - - - - DNA PCR - - - - - - control - - 64 JP - - - - - - - - 64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0%
?/? 01i c.36+11C>T
    + c.36+11C>T
p.(=) r.(=) dbSNP-rs2275602 - - MUTYH_00003 substitution, base pair - - - - DNA SEQ - - - - - - - ? - 1 ? - - - - - - - - -
?/? 01i c.36+11C>T
    + c.36+11C>T
p.(=) r.(=) dbSNP-rs2275602 - - MUTYH_00003 substitution, base pair - - - - DNA SEQ - - - - - - - ? - 1 ? - - - - - - - - -
-?/? 01i c.36+11C>T p.(=) r.(=) Zhou et al., 2005 IVS1+11C>T - MUTYH_00003 substitution, base pair - www.fruitfly.org: no splicing effect - 2,1% of n=84 DNA, leukocyte DHPLC, SEQ (ex1-16) screen MUTYH gene (group) - - - - - CRC ? - 1 SE - - - - - - - - 2,1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations
?/? 01i c.36+54G>A p.(=) r.(=) dbSNP-rs17838009 - - MUTYH_00230 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+75C>G p.(=) r.(=) Clinical Genetics, LUMC, Leiden, NL - - MUTYH_00020 substitution, base pair - - - - DNA SEQ - - - - - - ? ? - 1 NL - - - - - - - - -
?/? 01i c.36+75C>G p.(=) r.(=) dbSNP-rs3219467 - - MUTYH_00020 substitution, base pair - - - - DNA SEQ - - - - - - - ? - 1 (CA), (US) - - - - - - - - Individual P056 of the PDR90 panel. North American. Heterozygote.
?/? 01i c.36+267C>T p.(=) r.(=) Goto et al., 2008 - - MUTYH_00200 substitution, base pair - Beta transcript: NM_001048174.1:c.-60C>T (ex1) ; Gamma: NM_001048173.1:c.-7+24C>T (IVS1+24C>T); not on putative TF binding seq (www.genomatix.de/matinspector.html). Contains GAGA box seq in opposite orientation; 301 bp upstream of initiation codon TOE1 - 1/46 alleles DNA, FFPE, non-cancerous gastric mucosa SEQ (ex1-16) Screen MUTYH gene (index) - - - - - Cancer, gastric - - 1 JP - - - - - - - - Among 23 Japanese gastric cancer patients
?/? 01i c.36+325 G>C - - Plotz et al., 2012 - - MUTYH_00324 - - The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA germline 1/54 controls DNA-l SEQ, TaqMan SEQ-germline, TaqMan-RNA quantification - - - - - - F - 1 DE unknown no no A- - - - Germany:60590 Frankfurt Control individual, age 34
?/? 01i c.36+325G>C p.(spl?) r.(spl?) Kambara et al., 2004 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation - - - DNA RFLP, SEQ - - - - - - CRC M - 1 AU - - - - - - - - -
?/? 01i c.36+325G>C p.(spl?) r.(spl?) Kambara et al., 2004 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation - - - DNA RFLP, SEQ - - - - - - Adenomas ? - 1 AU - - - - - - - - -
?/? 01i c.36+325G>C p.(spl?) r.(spl?) Kambara et al., 2004 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation - - - DNA RFLP, SEQ - - - - - - control ? - 2 AU - - - - - - - - 2 healthy blood donors
?/? 01i c.36+325G>C p.(spl?) r.(spl?) Yamaguchi et al., 2002 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). - - DNA SEQ - - - - - - Lung cancer cell line - - 1 - - - - - - - - - among 51 lung cancer cell lines
?/? 01i c.36+325G>C p.(spl?) r.(spl?) Yamaguchi et al., 2002 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). - - DNA SEQ - - - - - - Oesophageal cancer - - 1 USA - - - - - - - - among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients.
?/? 01i c.36+325G>C p.(spl?) r.(spl?) Yamaguchi et al., 2002 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). - - DNA SEQ - - - - - - Skin cancer - - 1 USA - - - - - - - - among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients.
?/? 01i c.36+325G>C p.(spl?) r.(spl?) Yamaguchi et al., 2002 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). - - DNA SEQ - - - - - - CRC - - 2 USA - - - - - - - - among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients.
?/? 01i c.36+325G>C p.(spl?) r.(spl?) MGZ, München, DE IVS1+5G>C; c.156+5G>C - MUTYH_00004 substitution, base pair splice mutation - - - DNA SEQ - - - - - - ? - - 1 (DE) - - - - - - - German HNPCC Consortium - Munich -
?/? 01i c.36+325G>C p.(spl?) r.(spl?) Barnetson et al., 2007 c.35+325G>C - MUTYH_00004 substitution, base pair splice mutation - - 0.01 (?); n=225 DNA SEQ - - - - - - cancer, endometrial ? - 1 IE, UK - - - - - - - - detected in one or more of the 5 patients heterozygous for c.536A>G or c.1187G>A. Exact combinations not specified.
?/? 01i c.36+325G>C p.(spl?) r.(spl?) NCBI reference sequence NC_000001.10 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). - - DNA SEQ - - - - - - - ? - 1 - - - - - - - - - Minor C allele found in MUTYH genomic reference sequence. G is major allele according to Yamaguchi 2002 and dbSNP3219468: ss4911226
?/? 01i c.36+325G>C p.(spl?) r.(spl?) NCBI reference sequence NT_032977.9 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). - - DNA SEQ - - - - - - - ? - 1 - - - - - - - - - Minor C allele found in MUTYH genomic reference sequence. G is major allele according to Yamaguchi 2002 and dbSNP3219468: ss4911226
?/? 01i c.36+325G>C p.(spl?) r.(spl?) dbSNP-rs3219468; ss4911226 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation Retention of 237 bp of intron 1 in beta transcript (nuclear). Translation efficiency of normal beta transript reduced to ~25%. Earlier ORF in altered beta transcript encoding a 9 amino acid polypeptide (Yamaguchi 2002). - PDR90:C:0.006 DNA SEQ - - - - - - - ? - 1 - - - - - - - - - The NIH Polymorphism Discovery Resource (NIHPDR) 90 individual screening subset (global).
?/? 01i c.36+325G>C
    + c.1014G>C
p.(spl?) r.(spl?) Plotz et al., 2012 IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_00004 substitution, base pair splice mutation The variant significantly reduced the level of the MUTYH beta-transcripts in lymphocyte RNA germline 1/54 controls DNA-l, RNA SEQ, TaqMan SEQ-germline, TaqMan-RNA quantification - - - - - polyposis F - 1 DE unknown no no - - - - Germany:60590 Frankfurt -
?/? 01i c.36+478C>G p.(=) r.(=) dbSNP-rs3219469 - - MUTYH_00231 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+721C>T p.(=) r.(=) dbSNP-rs3219470 - - MUTYH_00232 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+830G>A p.(=) r.(=) dbSNP-rs1140199 - - MUTYH_00233 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+845G>C p.(=) r.(=) dbSNP-rs6696152 - - MUTYH_00234 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+847T>C p.(=) r.(=) dbSNP-rs1140200 - - MUTYH_00235 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+852A>G p.(=) r.(=) dbSNP-rs1140201 - - MUTYH_00236 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+991_36+992insA p.(=) r.(=) dbSNP-rs60609540 - - MUTYH_00237 insertion, small - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+1464_36+1465del p.(=) r.(=) dbSNP-rs71667141 - - MUTYH_00291 deletion, small - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+1466_36+1467insAC p.(=) r.(=) dbSNP-rs35518179 - - MUTYH_00292 insertion, small - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+1467_36+1468insAC p.(=) r.(=) dbSNP-rs10638672 - - MUTYH_00293 insertion, small - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+1474dup p.(=) r.(=) dbSNP-rs63261960 c.36+1473_36+1474insA - MUTYH_00290 duplication, small - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+1474dup p.(=) r.(=) dbSNP-rs11403361 c.36+1474_36+1475insA - MUTYH_00290 duplication, small - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+1841G>A p.(=) r.(=) Yamaguchi et al., 2002 IVS1+1520 A/G (beta transcript); NM_001048174.1: c.-7+1521G>A (beta transcript) - MUTYH_00164 substitution, base pair - - - - DNA SEQ - - - - - - Lung cancer cell line - - 2 - - - - - - - - - multiple among 51 lung cancer cell lines
?/? 01i c.36+1841G>A p.(=) r.(=) dbSNP-rs3219472 IVS1+1520 A/G (beta transcript); NM_001048174.1: c.-7+1521G>A (beta transcript) - MUTYH_00164 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+1563dup p.(=) r.(=) dbSNP-rs34686049 c.36+1561_36+1562insG - MUTYH_00294 duplication, small - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+1802G>A p.(=) r.(=) dbSNP-rs3219471 - - MUTYH_00295 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+1945C>T p.(=) r.(=) dbSNP-rs3219473 - - MUTYH_00297 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+1946dup p.(=) r.(=) dbSNP-rs35804643 c.36+1943_36+1944insC - MUTYH_00296 duplication, small - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+2351C>T p.(=) r.(=) dbSNP-rs7522089 - - MUTYH_00298 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+2478T>C p.(=) r.(=) dbSNP-rs3219474 - - MUTYH_00299 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.36+2774G>A p.(=) r.(=) dbSNP-rs3219475 - - MUTYH_00300 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.37-2653C>A p.(=) r.(=) dbSNP-rs61789858 - - MUTYH_00301 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.37-2487T>G p.(=) r.(=) dbSNP-rs3219476 - - MUTYH_00245 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.37-1960G>C p.(=) r.(=) Yamaguchi et al., 2002 IVS1+3427 C/G (beta transcript); NM_001048174.1: c.-6-1960G>C (beta transcript) - MUTYH_00165 substitution, base pair - - - - DNA SEQ - - - - - - Lung cancer cell line - - 2 - - - - - - - - - multiple among 51 lung cancer cell lines
?/? 01i c.37-1960G>C p.(=) r.(=) dbSNP-rs3219479 IVS1+3427 C/G (beta transcript); NM_001048174.1: c.-6-1960G>C (beta transcript) - MUTYH_00165 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
?/? 01i c.37-2139T>C p.(=) r.(=) dbSNP-rs3219477 - - MUTYH_00302 substitution, base pair - - - - DNA SEQ - - - - - - - - - 1 - - - - - - - - - -
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Legend: [ MUTYH full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon DNA change: DNA change Protein: Protein change RNA change: RNA change Variant reference: Variant reference DNA_reported: DNA_reported Protein_reported: Protein_reported MUTYH DB-ID: DB-ID Type: Type Cons_predicted: Consequence_predicted Variant remarks: Variant remarks Origin: Origin Frequency: Frequency Detection/Template: Detection/Template Detection/Technique: Detection/Technique Method: Method Protein_test/Method: Protein_test/Method Protein_test/Result: Protein_test/Result Protein_test/Type: Protein_test/Type Protein_data: Protein_data Protein_location: Protein_location Disease: Disease Gender: Gender Inherit: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) # Reported: Number of times this case has been reported Geographic origin: Geographic origin Colorectal phenotype: Colorectal phenotype Additional phenotype info: Additional phenotype information Pedigree info available: Pedigree info available CC_criteria: CC_criteria = colon cancer criteria Tumor_IHC: Tumor_IHC Tumor_MSI: Tumor_MSI Phenotype additional: Phenotype, additional features Phenotype reference: Phenotype reference = reference describing phenotype/family, when different from Variant/Reference (e.g. publication, conference - indicate name presenter and year) and reference to submitter to database Remarks: Remarks