Full data view for gene MUTYH


Information The variants shown are described using the NM_001128425.1 transcript reference sequence.

2994 entries on 30 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

P-domain     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-3396C>T likely benign r.(?) p.(=) - Unknown g.45809322G>A - TOE1(NM_025077.3):c.1481G>A (p.(Arg494His)) - chr1_012213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2985G>A likely benign r.(?) p.(=) - Unknown g.45808911C>T - TOE1(NM_025077.3):c.1070C>T (p.(Thr357Ile)) - TOE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2937C>T likely benign r.(?) p.(=) - Unknown g.45808863G>A - TOE1(NM_025077.3):c.1022G>A (p.(Arg341His)) - MUTYH_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2907G>A likely benign r.(?) p.(=) - Unknown g.45808833C>T - TOE1(NM_025077.3):c.992C>T (p.A331V) - chr1_012212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2747G>A VUS r.(?) p.(=) - Unknown g.45808673C>T - TOE1():c.911C>T (p.Ser304Leu) - TOE1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.-2236T>A likely pathogenic r.(?) p.(=) - Unknown g.45808162A>T - TOE1(NM_025077.3):c.599A>T (p.Tyr200Phe) - chr1_012211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1266C>T VUS r.(?) p.(=) - Unknown g.45807192G>A - TOE1():c.284G>A (p.Arg95His) - TOE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.-1072C>G likely pathogenic r.(?) p.(=) - Unknown g.45806998G>C - TOE1(NM_025077.3):c.219G>C (p.Arg73Ser) - chr1_012210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Unknown g.45810091A>G - - - MUTYH_000039 - DUPLICATE – to be removed - rs9429072 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Unknown g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 625/2520=24.8% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 455/1260 (36.1%) heterozygotes among Caucasian prostate cancer patients (85 homozygotes) M - United States white - 0 - - 455 Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Parent #1 g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 625/2520=24.8% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 85/1260 (6.8%) homozygotes among Caucasian prostate cancer patients (455 heterozygotes) M - United States white - 0 - - 85 Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Parent #2 g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 625/2520=24.8% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 85/1260 (6.8%) homozygotes among Caucasian prostate cancer patients (455 heterozygotes) M - United States white - 0 - - 85 Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Unknown g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 151/290=52.1% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 71/145 (49.0%) heterozygotes among African-American prostate cancer patients (40 homozygotes) M - United States African-American - 0 - - 71 Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Parent #1 g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 151/290=52.1% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 40/145 (27.6%) homozygotes among African-American prostate cancer patients (71 heterozygotes) M - United States African-American - 0 - - 40 Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Parent #2 g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 151/290=52.1% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, prostate - PubMed: Agalliu 2009 40/145 (27.6%) homozygotes among African-American prostate cancer patients (71 heterozygotes) M - United States African-American - 0 - - 40 Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Unknown g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 637/2494=25.5% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 485/1247 (38.9%) heterozygotes among Caucasian controls (76 homozygotes) M - United States white - 0 - - 485 Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Parent #1 g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 637/2494=25.5% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 76/1247 (6.1%) homozygotes among Caucasian controls (485 heterozygotes) M - United States white - 0 - - 76 Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Parent #2 g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 637/2494=25.5% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 76/1247 (6.1%) homozygotes among Caucasian controls (485 heterozygotes) M - United States white - 0 - - 76 Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Unknown g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 78/158=49.4% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 32/79 (40.5%) heterozygotes among African-American controls (23 homozygotes) M - United States African-American - 0 - - 32 Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Parent #1 g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 78/158=49.4% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 23/79 (29.1%) homozygotes among African-American controls (32 heterozygotes) M - United States African-American - 0 - - 23 Astrid Out
?/. _1 c.-216-3949T>C VUS r.(=) p.(=) - Parent #2 g.45810091A>G - - - MUTYH_000039 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 PubMed: Agalliu 2009 - rs9429072 Unknown - 78/158=49.4% - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? - PubMed: Agalliu 2009 23/79 (29.1%) homozygotes among African-American controls (32 heterozygotes) M - United States African-American - 0 - - 23 Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - Unknown g.45808863G>A - NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 - DUPLICATE – to be removed - rs9429157 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - Unknown g.45808863G>A - NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 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 PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c-216-2721_HET PubMed: Schafmayer 2007 - - - Germany - - 0 - - 91 Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - Parent #1 g.45808863G>A - NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 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 PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c-216-2721_HOM PubMed: Schafmayer 2007 - - - Germany - - 0 - - 1 Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - Parent #2 g.45808863G>A - NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 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 PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) CRC 17417778_patients_c-216-2721_HOM PubMed: Schafmayer 2007 - - - Germany - - 0 - - 1 Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - Unknown g.45808863G>A - NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 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 PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c-216-2721_HET PubMed: Schafmayer 2007 - - - Germany - - 0 - - 62 Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - Parent #2 g.45808863G>A - NT_032977.9:g.15780781G>A - MUTYH_000288 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 PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c-216-2721_HOM PubMed: Schafmayer 2007 - - - Germany - - 0 - - 3 Astrid Out
?/. _1 c.-216-2721C>T VUS r.(=) p.(=) - Parent #1 g.45808863G>A - NT_032977.9:g.15780781G>A; rs9429157 - MUTYH_000288 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 PubMed: Schafmayer 2007 - rs9429157 Germline - 1068 CRC patients: 91 (8.5%) heterozygous, 1 (0.09%) homozygous; 738 controls: 62 (8.5%) heterozygous, 3 (0.4%) homozygous - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17417778_controls_c-216-2721_HOM PubMed: Schafmayer 2007 - - - Germany - - 0 - - 3 Astrid Out
?/. _1 c.-216-290G>A VUS r.(=) p.(=) - Unknown g.45806432C>T - - - MUTYH_000244 - DUPLICATE – to be removed - rs3219463 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-290G>A VUS r.(?) p.(=) - Unknown g.45806432C>T - - - MUTYH_000244 - - - rs3219463 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-64G>A VUS r.(=) p.(=) - Unknown g.45806206C>T - -280G>A - MUTYH_000163 - DUPLICATE – to be removed - rs3219465 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-216-64G>A VUS r.(=) p.(=) - Unknown g.45806206C>T - -280G>A - MUTYH_000163 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. PubMed: Tao 2008 - rs3219465 Unknown - - - 0 - DNA PCR - - CRC - PubMed: Tao 2008 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8% - - Japan - - 0 - - 78 Astrid Out
?/. _1 c.-216-64G>A VUS r.(=) p.(=) - Unknown g.45806206C>T - -280G>A - MUTYH_000163 Not tested on entire cohort. Expected to be in 100% LD with c.36+11C>T. PubMed: Tao 2008 - rs3219465 Unknown - - - 0 - DNA PCR - - ? - PubMed: Tao 2008 64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0% - - Japan - - 0 - - 64 Astrid Out
?/. _1 c.-177C>T VUS r.(=) p.(=) - Unknown g.45806103G>A - - - MUTYH_000001 - DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-177C>T VUS r.(=) p.(=) - Parent #1 g.45806103G>A - - - MUTYH_000001 - Clinical Genetics, LUMC, Leiden, NL - rs3219466 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Genetics, LUMC, Leiden, NL - F - (Netherlands) - - 0 - - 1 Carli Tops
-?/. - c.-177T>C likely benign r.(?) p.(=) - Unknown g.45806103A>G - MUTYH(NM_001128425.1):c.-177T>C (p.?) - MUTYH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-165C>T VUS r.(=) p.(=) - Unknown g.45806091G>A - - - MUTYH_000083 - DUPLICATE – to be removed - rs3219466 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-165C>T VUS r.(=) p.(=) - Unknown g.45806091G>A - - - MUTYH_000083 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219466 Unknown - 1/160 alleles - 0 - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_-165 PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - 0 - - 1 Astrid Out
-/. - c.-127C>T benign r.(?) p.(=) - Unknown g.45806053G>A - MUTYH(NM_001128425.1):c.-127C>T (p.?) - MUTYH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-127C>T VUS r.(?) p.(=) - Parent #1 g.45806053G>A - - - MUTYH_000002 - contributed by Dept. of Dr Vaccaro - - Germline - - - 0 - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. _1 c.-127C>T VUS r.(=) p.(=) - Unknown g.45806053G>A - - - MUTYH_000002 - DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-127C>T VUS r.(=) p.(=) - Unknown g.45806053G>A - - - MUTYH_000002 - http://egp.gs.washington.edu/data/mutyh/ - rs3219466 Unknown - 0.02 - 0 - DNA SEQ - - ? - http://egp.gs.washington.edu/data/mutyh/ - - - - - - 0 - - 1 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Unknown g.45806053G>A - - - MUTYH_000002 - Clinical Genetics, LUMC, Leiden, NL - rs3219466 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) cancer, breast - Clinical Genetics, LUMC, Leiden, NL - F - Netherlands - - 0 - - 1 Carli Tops
?/. _1 c.-127C>T VUS r.(=) p.(=) - Unknown g.45806053G>A - - - MUTYH_000002 Frequency in 62 probands New York, 13 Milan, 5 Madrid PubMed: Peterlongo 2006 - rs3219466 Unknown - 4/160 alleles - 0 - DNA SEQ leukocyte SEQ (ex1-16), screen MUTYH gene (index) ? 16774938_patients_-127 PubMed: Peterlongo 2006 Among 80 patients with 20 or less polyps and/or CRC; families more than 2 CRCs; 62 NY; 5 Madrid; 13 Milan - - United States Spain, Italy - 0 - - 4 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Unknown g.45806053G>A - - - MUTYH_000002 - Molecular Medicine, AUH, Skejby, Aarhus, DK - rs3219466 Unknown - 6/230 - 0 - DNA SEQ leukocyte - polyposis - Molecular Medicine, AUH, Skejby, Aarhus, DK 6/115 polyposis and/or CRC patients heterozygous c.-127C>T; minor allele frequency 6/230 - - Denmark - - 0 - - 6 Mette Gaustadnes
?/. _1 c.-127C>T VUS r.(=) p.(=) - Parent #1 g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast 16492928_patients_c-127_HOM PubMed: Zhang 2006 2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls F - United States white - 0 - - 2 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Parent #2 g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast 16492928_patients_c-127_HOM PubMed: Zhang 2006 2 (0.1%) homozygotes among 1593 breast cancer patients; 1 (0.08%) homozygote among 1261 controls F - United States white - 0 - - 2 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Unknown g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 102/3186 (3.2%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) cancer, breast 16492928_patients_c-127_HET PubMed: Zhang 2006 98 (6.2%) heterozygotes among 1593 breast cancer patients; '96 (7.6%) heterozygotes among 1261 controls F - United States white - 0 - - 98 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Parent #1 g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) ? 16492928_controls_c-127_HOM PubMed: Zhang 2006 1 (0.08%) homozygote among 1261 controls; 2 (0.1%) homozygotes among 1593 breast cancer patients F - United States white - 0 - - 1 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Parent #2 g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) ? 16492928_controls_c-127_HOM PubMed: Zhang 2006 1 (0.08%) homozygote among 1261 controls; 2 (0.1%) homozygotes among 1593 breast cancer patients F - United States white - 0 - - 1 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Unknown g.45806053G>A - - - MUTYH_000002 - PubMed: Zhang 2006 - rs3219466 Germline - 98/2522 (3.9%) - 0 - DNA SEQ buccal cells specific genotyping, test known variants (index) ? 16492928_controls_c-127_HET PubMed: Zhang 2006 96 (7.6%) heterozygotes among 1261 controls; 98 (6.2%) heterozygotes among 1593 breast cancer patients F - United States white - 0 - - 96 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Unknown g.45806053G>A - ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 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 - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) cancer, bladder 17203305_patients_c-127_HET PubMed: Figueroa 2007 - - - Spain - - 0 - - 55 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Parent #1 g.45806053G>A - ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 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 - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (index) cancer, bladder 17203305_patients_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - 0 - - 1 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Parent #2 g.45806053G>A - ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 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 - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (index) cancer, bladder 17203305_patients_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - 0 - - 1 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Unknown g.45806053G>A - ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 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 - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (group) ? 17203305_controls_c-127_HET PubMed: Figueroa 2007 - - - Spain - - 0 - - 48 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Parent #1 g.45806053G>A - ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 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 - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (index) ? 17203305_controls_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - 0 - - 1 Astrid Out
?/. _1 c.-127C>T VUS r.(=) p.(=) - Parent #2 g.45806053G>A - ex1+8C>T - MUTYH_000002 - PubMed: Figueroa 2007 - rs3219466 Germline - 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 - 0 - DNA SEQ leukocyte allelic discrimination, test known variant (index) ? 17203305_controls_c-127_HOM PubMed: Figueroa 2007 - - - Spain - - 0 - - 1 Astrid Out
?/. _1 c.-83G>A VUS r.(=) p.(=) - Unknown g.45806009C>T - - - MUTYH_000229 - DUPLICATE – to be removed - rs28372898 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-83G>A VUS r.(?) p.(=) - Unknown g.45806009C>T - - - MUTYH_000229 - - - rs28372898 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-56G>C VUS r.(=) p.(=) - Unknown g.45805982C>G - - - MUTYH_000011 - DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. _1 c.-56G>C VUS r.(=) p.(=) - Unknown g.45805982C>G - - - MUTYH_000011 new in this paper; not in 500 control chromosomes PubMed: Gómez-Fernández 2009 - - Unknown - - - 0 - DNA SSCA, SEQ leukocyte Taqman 4 variants, screen MUTYH gene (index) cancer, colon PMID19531215_4 PubMed: Gómez-Fernández 2009 - - - Spain Galician or Catalonian - 0 - - 1 Astrid Out
?/. 13 c.?C>A VUS r.? p.? - Unknown g.? - 1249C>A (Leu406Met) - MUTYH_000000 - - - - Unknown - - - 0 - DNA SEQ - - ? - MGZ, Munchen, Germany since age 47 repeatedly adenomas extracted (histological reports classify them as hyperplastic polyps in almost all cases) - - (Germany) - - 0 - - 6 Elke Holinski-Feder
?/. 12 c.?G>A VUS r.(?) p.(?) - Parent #1 g.? - 1082G>A (Arg350His) - MUTYH_000000 PolyPhen PSIC 1.6 possibly damaging MGZ, Munchen, DE - - Unknown - - - 0 - DNA SEQ - - ? - MGZ, Munchen, Germany diagnosed with carcinoma at age 24, reports show recurrent adenomas of the villous and tubulo-villous kind within the rectum and in all parts of the colon, at age 64 carcinoma of the the appendix, daughter healthy at age 59 - - (Germany) - - 0 - - 1 Elke Holinski-Feder
?/. 12 c.?G>A VUS r.(?) p.(?) - Parent #1 g.? - 1082G>A (Arg350His) - MUTYH_000000 PolyPhen PSIC 1.6 possibly damaging MGZ, Munchen, DE - - Unknown - - - 0 - DNA SEQ - - ? - MGZ, Munchen, Germany no known clinic, predictive - - (Germany) - - 0 - - 1 Elke Holinski-Feder
+?/. - c.2T>C likely pathogenic r.(?) p.Met1? - Unknown g.45805925A>G - - - MUTYH_000360 ACMG grading: PM2,PVS1; CRC at age 42y, clinical poyposis, IHC: all 4 MMR genes axpressed, MSS - - rs865954220 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
?/. 1 c.8C>T VUS r.(=) p.(Pro3Leu) - Unknown g.45805919G>A - - - MUTYH_000178 - DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.8C>T VUS r.(=) p.(Pro3Leu) - Parent #1 g.45805919G>A - - - MUTYH_000178 - MGZ, Munchen, DE - - Unknown - - - 0 - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - 0 - - 1 Elke Holinski-Feder
?/. 1 c.20G>A VUS r.(20g>a) p.(Arg7His) - Unknown g.45805907C>T - 20G>A (Arg7His) - MUTYH_000256 - DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.20G>A VUS r.(20g>a) p.(Arg7His) - Unknown g.45805907C>T - 20G>A (Arg7His) - MUTYH_000256 - Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK - - Unknown - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) ? - Clinical Biochemistry, Hvidovre Hospital, Hvidovre, DK - - - Denmark - - 0 - - 1 Rikke Veggerby Groenlund
?/. 1i c.36+1G>A VUS r.spl p.0? - Unknown g.45805890C>T - - - MUTYH_000224 - DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.36+1G>A pathogenic r.spl p.0? - Unknown g.45805890C>T - - - MUTYH_000224 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. Redeker (unpublished); AMC, Amsterdam, NL - - Unknown - - - 0 - DNA SEQ - - polyposis - Redeker (unpublished); AMC, Amsterdam, NL - M - Netherlands - - 0 - - 1 Bert Redeker
?/. 1i c.36+1G>A VUS r.spl p.0? - Unknown g.45805890C>T - - - MUTYH_000224 MSH2: c.1729T>C PubMed: Niessen et al. 2006 - - Germline - - - 0 - DNA DGGE, SEQ leukocyte screen MUTYH gene (index) CRC 16408224_2 PubMed: Niessen 2006 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%), - - Netherlands - - 0 - - 1 Astrid Out
-/. - c.36+11C>T benign r.(=) p.(=) - Unknown g.45805880G>A - MUTYH(NM_001128425.1):c.36+11C>T (p.?), TOE1(NM_025077.3):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.36+11C>T benign r.(=) p.(=) - Unknown g.45805880G>A - MUTYH(NM_001128425.1):c.36+11C>T (p.?), TOE1(NM_025077.3):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+11C>T VUS r.(=) p.(=) - Unknown g.45805880G>A - IVS1+11C>T - MUTYH_000003 - DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+11C>T VUS r.(=) p.(=) - Parent #1 g.45805880G>A - - - MUTYH_000003 - Clinical Genetics, LUMC, Leiden, NL - rs2275602 Germline - - - 0 - DNA SEQ leukocyte screen MUTYH gene (index) cancer, duodenal - Clinical Genetics, LUMC, Leiden, NL - M - (Netherlands) - - 0 - - 1 Carli Tops
?/. 1i c.36+11C>T VUS r.(=) p.(=) - Unknown g.45805880G>A - - - MUTYH_000003 - PubMed: Tao 2008 - rs2275602 Unknown - - - 0 - DNA PCR - - CRC - PubMed: Tao 2008 78 (11.4%) heterozygote or homozygote among 685 CRC patients; Haplotype 5.8% - - Japan - - 0 - - 78 Astrid Out
?/. 1i c.36+11C>T VUS r.(=) p.(=) - Unknown g.45805880G>A - - - MUTYH_000003 - PubMed: Tao 2008 - rs2275602 Unknown - - - 0 - DNA PCR - - ? - PubMed: Tao 2008 64 (8.2%) heterozygote or homozygote among 778 control subjects; Haplotype 4.0% - - Japan - - 0 - - 64 Astrid Out
?/. 1i c.36+11C>T VUS r.(=) p.(=) - Unknown g.45805880G>A - IVS1+11C>T - MUTYH_000003 www.fruitfly.org: no splicing effect PubMed: Zhou 2005 - - Unknown - 2,1% of n=84 - 0 - DNA DHPLC, SEQ leukocyte ex 1-16 screen MUTYH gene (group) CRC 15943555_84_1 PubMed: Zhou 2005 2,1% carriers/84 Swedish patients with CRC + positive family history; APC, MLH1, MSH2, MSH6 mutation negative; No MUTYH mutations - - Sweden - - 0 - - 1 Astrid Out
-/. - c.36+11C>T benign r.(=) p.(=) - Unknown g.45805880G>A - MUTYH(NM_001128425.1):c.36+11C>T (p.?), TOE1(NM_025077.3):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36+11C>T benign r.(=) p.(=) - Unknown g.45805880G>A - MUTYH(NM_001128425.1):c.36+11C>T (p.?), TOE1(NM_025077.3):c.-45G>A - MUTYH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+54G>A VUS r.(=) p.(=) - Unknown g.45805837C>T - - - MUTYH_000230 - DUPLICATE – to be removed - rs17838009 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+54G>A VUS r.(?) p.(=) - Unknown g.45805837C>T - - - MUTYH_000230 - - - rs17838009 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+75C>G VUS r.(=) p.(=) - Unknown g.45805816G>C - - - MUTYH_000020 - DUPLICATE – to be removed - rs3219467 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+75C>G VUS r.(=) p.(=) - Parent #1 g.45805816G>C - - - MUTYH_000020 - Clinical Genetics, LUMC, Leiden, NL - rs3219467 Unknown - - - 0 - DNA SEQ - - ? - Clinical Genetics, LUMC, Leiden, NL - - - Netherlands - - 0 - - 1 Carli Tops
?/. 1i c.36+267C>T VUS r.(=) p.(=) - Unknown g.45805624G>A - - - MUTYH_000200 - DUPLICATE – to be removed - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+267C>T VUS r.(=) p.(=) - Unknown g.45805624G>A - - - MUTYH_000200 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 PubMed: Goto 2008 - - Unknown - 1/46 alleles - 0 - DNA SEQ FFPE, non-cancerous gastric mucosa SEQ (ex1-16), screen MUTYH gene (index) cancer, gastric - PubMed: Goto 2008 Among 23 Japanese gastric cancer patients - - Japan - - 0 - - 1 Astrid Out
-/. - c.36+325C>G benign r.(=) p.(=) - Unknown g.45805566G>C - MUTYH(NM_001128425.1):c.36+325C>G, TOE1(NM_025077.3):c.-359G>C - MUTYH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+325G>C VUS r.spl p.? - Unknown g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 - DUPLICATE – to be removed - rs3219468 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1i c.36+325G>C VUS r.spl p.? - Unknown g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 - PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - DNA PCRdig, SEQ - - CRC - PubMed: Kambara 2004 - M - Australia - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - Unknown g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 - PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - DNA PCRdig, SEQ - - ? - PubMed: Kambara 2004 - - - Australia - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - Unknown g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 - PubMed: Kambara 2004 - rs3219468 Unknown - - - 0 - DNA PCRdig, SEQ - - ? - PubMed: Kambara 2004 2 healthy blood donors - - Australia - - 0 - - 2 Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - Unknown g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 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). PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - DNA SEQ - - cancer, lung 12056405_1 PubMed: Yamaguchi 2002 among 51 lung cancer cell lines - - - - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - Unknown g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 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). PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - DNA SEQ - - cancer, esophageal 12056405_2 PubMed: Yamaguchi 2002 among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients. - - United States - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - Unknown g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 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). PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - DNA SEQ - - cancer, skin 12056405_3 PubMed: Yamaguchi 2002 among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients. - - United States - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - Unknown g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 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). PubMed: Yamaguchi 2002 - rs3219468 Unknown - - - 0 - DNA SEQ - - CRC 12056405_4 PubMed: Yamaguchi 2002 among 43 US cancer (different types) patients; Not found in 55 Japanese lung cancer patients. - - United States - - 0 - - 2 Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - Parent #1 g.45805566C>G - IVS1+5G>C; 156+5G>C - MUTYH_000004 - MGZ, Munchen, DE - rs3219468 Unknown - - - 0 - DNA SEQ - - ? - MGZ, Munchen, Germany - - - (Germany) - - 0 - - 1 Elke Holinski-Feder
?/. 1i c.36+325G>C VUS r.spl p.? - Unknown g.45805566C>G - 35+325G>C - MUTYH_000004 - PubMed: Barnetson 2007 - rs3219468 Unknown - 0.01 (?); n=225 - 0 - DNA SEQ - - cancer, endometrial PMID17956577_7 PubMed: Barnetson 2007 detected in one or more of the 5 patients heterozygous for c.536A>G or c.1187G>A. Exact combinations not specified. - - Ireland - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - Unknown g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 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). NCBI reference sequence NC_000001.10 - rs3219468 Unknown - - - 0 - DNA SEQ - - ? - NCBI reference sequence NC_000001.10 Minor C allele found in MUTYH genomic reference sequence. G is major allele according to Yamaguchi 2002 and dbSNP3219468: ss4911226 - - - - - 0 - - 1 Astrid Out
?/. 1i c.36+325G>C VUS r.spl p.? - Unknown g.45805566C>G - IVS1+5 G/C (in beta (nuclear) transcript with other (non-coding) exon 1 than alpha (mitochondrial) transcript) - MUTYH_000004 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). NCBI reference sequence NT_032977.9 - rs3219468 Unknown - - - 0 - DNA SEQ - - ? - NCBI reference sequence NT_032977.9 Minor C allele found in MUTYH genomic reference sequence. G is major allele according to Yamaguchi 2002 and dbSNP3219468: ss4911226 - - - - - 0 - - 1 Astrid Out
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