chr2:47637301:T>G Detail (hg19) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,637,301-47,637,301
hg38 chr2:47,410,162-47,410,162 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.435T>G NP_000242.1:p.Ile145Met
NM_001258281.1:c.237T>G NP_001245210.1:p.Ile79Met
Ensemble ENST00000233146.7:c.435T>G ENST00000233146.7:p.Ile145Met
Summary

MGeND

Clinical significance
Variant entry
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 Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 609309 OMIM
HGNC 7325 HGNC
Ensembl ENSG00000095002 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-03-12 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Likely benign 2014-06-01 no assertion criteria provided Colorectal cancer, non-polyposis germline Detail
Conflicting interpretations of pathogenicity 2024-02-06 criteria provided, conflicting interpretations not specified germline unknown Detail
Conflicting interpretations of pathogenicity 2024-03-01 criteria provided, conflicting interpretations not provided germline Detail
Conflicting interpretations of pathogenicity 2023-03-22 criteria provided, conflicting interpretations Lynch syndrome 1 germline unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Muir-Torré syndrome,Mismatch repair cancer syndrome 1,Lynch syndrome 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Muir-Torré syndrome,Mismatch repair cancer syndrome 1,Lynch syndrome 1 unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Muir-Torré syndrome,Mismatch repair cancer syndrome 1,Lynch syndrome 1 unknown Detail
Benign 2024-01-31 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Uncertain significance 2019-01-01 criteria provided, single submitter breast carcinoma unknown Detail
Likely benign no assertion criteria provided Carcinoma of colon unknown Detail
Uncertain significance 2023-06-12 criteria provided, single submitter Breast and/or ovarian cancer germline Detail
Uncertain significance 2023-02-06 criteria provided, single submitter MSH2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 Colorectal cancer, hereditary nonpolyposis, type 1 Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in ... UNIPROT 22581703 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND Colorectal cancer, non-polyposis ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND not specified ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND not provided ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND Lynch syndrome 1 ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND multiple conditions ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND multiple conditions ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND multiple conditions ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND Breast carcinoma ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND Carcinoma of colon ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND Breast and/or ovarian cancer ClinVar Detail
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) AND MSH2-related disorder ClinVar Detail
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients. 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
rs63750124 dbSNP
Genome
hg19
Position
chr2:47,637,301-47,637,301
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121412
Allele Counts in All Race (ExAC)
41
Heterozygous Counts in All Race (ExAC)
41
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
3.376931440055349E-4
Genome browser