chr1:45797505:C>G Detail (hg19) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,797,505-45,797,505
hg38 chr1:45,331,833-45,331,833 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001048174.1:c.930G>C NP_001041639.1:p.Gln310His
NM_001293191.1:c.930G>C NP_001280120.1:p.Gln310His
NM_001048171.1:c.972G>C NP_001041636.1:p.Gln324His
Summary

MGeND

Clinical significance Likely benign
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.432
ToMMo:0.457
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.430

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 604933 OMIM
HGNC 7527 HGNC
Ensembl ENSG00000132781 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1349284 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Likely benign 2018/06/24 bone and articular cartilage, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Likely benign 2018/06/24 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Likely benign 2018/06/24 colon, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Likely benign 2018/06/24 other germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-11-29 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2017-05-12 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2015-03-27 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2014-07-24 no assertion criteria provided Carcinoma of colon germline Detail
Benign 2024-02-05 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 2 germline Detail
Benign no assertion criteria provided Familial multiple polyposis syndrome unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Impaired cognition Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(... BeFree 21884718 Detail
<0.001 Impaired cognition Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(... BeFree 21884718 Detail
0.009 Malignant neoplasm of lung We identified three common coding region (V22M, Q324H and S501F) and intronic (1... BeFree 14579148 Detail
<0.001 Rectal Carcinoma One SNP, rs3219489:G&gt;C (MUTYH Q324H) seemed to confer an increased risk of re... BeFree 20149637 Detail
0.001 Carcinoma of lung MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in ... BeFree 19161591 Detail
<0.001 Glaucoma, Primary Open Angle Additionally, the analysis of the 324 Gln/His MUTYH polymorphism gene distributi... BeFree 26056729 Detail
0.009 Malignant neoplasm of lung MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in ... BeFree 19161591 Detail
<0.001 Glaucoma, Primary Open Angle Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1,... BeFree 23499241 Detail
<0.001 Glaucoma, Primary Open Angle Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1,... BeFree 23499241 Detail
0.106 colorectal cancer Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and sm... BeFree 18823566 Detail
<0.001 colon carcinoma Our findings suggest that the MUTYH Gln324His and the APEX1 Asp148Glu constitute... BeFree 18823566 Detail
0.003 colorectal carcinoma Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and sm... BeFree 18823566 Detail
<0.001 Malignant tumor of colon Our findings suggest that the MUTYH Gln324His and the APEX1 Asp148Glu constitute... BeFree 18823566 Detail
0.028 colorectal carcinoma Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and sm... BeFree 18823566 Detail
0.122 colon carcinoma The ORs for the MUTYH Gln324His and the APEX1 Asp148Glu were statistically signi... BeFree 18823566 Detail
0.012 colorectal cancer Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and sm... BeFree 18823566 Detail
0.003 Malignant tumor of colon The ORs for the MUTYH Gln324His and the APEX1 Asp148Glu were statistically signi... BeFree 18823566 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) AND not provided ClinVar Detail
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) AND not specified ClinVar Detail
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) AND Carcinoma of colon ClinVar Detail
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) AND Familial multiple polyposis syndrome ClinVar Detail
Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(Pro242Arg) and NEIL2... DisGeNET Detail
Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(Pro242Arg) and NEIL2... DisGeNET Detail
We identified three common coding region (V22M, Q324H and S501F) and intronic (157+30A&gt;G, 462+35G... DisGeNET Detail
One SNP, rs3219489:G&gt;C (MUTYH Q324H) seemed to confer an increased risk of rectal cancer in homoz... DisGeNET Detail
MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in a Japanese populatio... DisGeNET Detail
Additionally, the analysis of the 324 Gln/His MUTYH polymorphism gene distribution in the patient gr... DisGeNET Detail
MUTYH Gln324His gene polymorphism and genetic susceptibility for lung cancer in a Japanese populatio... DisGeNET Detail
Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1, and the 324Gln/His ... DisGeNET Detail
Association of the 399Arg/Gln XRCC1, the 194 Arg/Trp XRCC1, the 326Ser/Cys OGG1, and the 324Gln/His ... DisGeNET Detail
Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese ... DisGeNET Detail
Our findings suggest that the MUTYH Gln324His and the APEX1 Asp148Glu constitutes an increased risk ... DisGeNET Detail
Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese ... DisGeNET Detail
Our findings suggest that the MUTYH Gln324His and the APEX1 Asp148Glu constitutes an increased risk ... DisGeNET Detail
Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese ... DisGeNET Detail
The ORs for the MUTYH Gln324His and the APEX1 Asp148Glu were statistically significant for colon can... DisGeNET Detail
Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese ... DisGeNET Detail
The ORs for the MUTYH Gln324His and the APEX1 Asp148Glu were statistically significant for colon can... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3219489 dbSNP
Genome
hg19
Position
chr1:45,797,505-45,797,505
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
117.18
Standard deviation of sample read depth (HGVD)
58.48
Number of reference allele (HGVD)
1375
Number of alternative allele (HGVD)
1045
Allele Frequency (HGVD)
0.4318181818181818
Gene Symbol (HGVD)
MUTYH
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3219489
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4567
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
7655
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
6868
East Asian Allele Counts (ExAC)
2955
East Asian Heterozygous Counts (ExAC)
1815
East Asian Homozygous Counts (ExAC)
570
East Asian Allele Frequency (ExAC)
0.4302562609202097
Chromosome Counts in All Race (ExAC)
97294
Allele Counts in All Race (ExAC)
28865
Heterozygous Counts in All Race (ExAC)
20333
Homozygous Counts in All Race (ExAC)
4266
Allele Frequency in All Race (ExAC)
0.29667810964704916
Genome browser