chr1:45800156:C>T Detail (hg19) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,800,156-45,800,156
hg38 chr1:45,334,484-45,334,484 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001048174.1:c.22G>A NP_001041639.1:p.Val8Met
NM_001293191.1:c.22G>A NP_001280120.1:p.Val8Met
NM_001048171.1:c.64G>A NP_001041636.1:p.Val22Met
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

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
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign 2021/03/19 control germline MGS000047
(TMGS000111) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-11-28 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2023-08-15 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign 2024-02-05 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 2 germline Detail
Benign 2022-08-04 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Benign 2019-01-01 criteria provided, single submitter breast carcinoma unknown Detail
Benign no assertion criteria provided Carcinoma of colon 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
Annotation

Annotations

DescrptionSourceLinks
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND not provided ClinVar Detail
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND not specified ClinVar Detail
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Breast carcinoma ClinVar Detail
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) AND Carcinoma of colon 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

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
rs3219484 dbSNP
Genome
hg19
Position
chr1:45,800,156-45,800,156
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
2
East Asian Heterozygous Counts (ExAC)
2
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
2.3110700254217703E-4
Chromosome Counts in All Race (ExAC)
121406
Allele Counts in All Race (ExAC)
5967
Heterozygous Counts in All Race (ExAC)
5541
Homozygous Counts in All Race (ExAC)
213
Allele Frequency in All Race (ExAC)
0.04914913595703672
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