chr2:47702310:G>C Detail (hg19) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,702,310-47,702,310
hg38 chr2:47,475,171-47,475,171 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.1906G>C NP_000242.1:p.Ala636Pro
NM_001258281.1:c.1708G>C NP_001245210.1:p.Ala570Pro
Ensemble ENST00000233146.7:c.1906G>C ENST00000233146.7:p.Ala636Pro
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 Pathogenic
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
Pathogenic 2013-09-05 reviewed by expert panel Lynch syndrome germline Detail
Pathogenic 2023-01-03 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2022-06-30 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2023-10-30 criteria provided, multiple submitters, no conflicts Lynch syndrome 1 germline unknown Detail
Pathogenic 2023-12-30 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Pathogenic 2018-10-31 criteria provided, single submitter Mismatch repair cancer syndrome 1,Lynch syndrome 1,Muir-Torré syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Mismatch repair cancer syndrome 1,Lynch syndrome 1,Muir-Torré syndrome unknown Detail
Pathogenic 2018-10-31 criteria provided, single submitter Mismatch repair cancer syndrome 1,Lynch syndrome 1,Muir-Torré syndrome unknown Detail
Pathogenic no assertion criteria provided Carcinoma of colon unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.332 Hereditary Nonpolyposis Colorectal Cancer NA CLINVAR Detail
0.008 Hereditary Nonpolyposis Colorectal Cancer In addition, the rate of the I1307K APC missense mutation and the two predominan... BeFree 15929773 Detail
0.332 Hereditary Nonpolyposis Colorectal Cancer In addition, the rate of the I1307K APC missense mutation and the two predominan... BeFree 15929773 Detail
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
0.002 uterine corpus cancer Unselected Jewish women with EC who were diagnosed from January 1982 to January ... BeFree 20850175 Detail
0.012 Malignant neoplasm of endometrium Unselected Jewish women with EC who were diagnosed from January 1982 to January ... BeFree 20850175 Detail
0.143 endometrial carcinoma Unselected Jewish women with EC who were diagnosed from January 1982 to January ... BeFree 20850175 Detail
0.012 uterine corpus cancer Unselected Jewish women with EC who were diagnosed from January 1982 to January ... BeFree 20850175 Detail
0.031 endometrial carcinoma Unselected Jewish women with EC who were diagnosed from January 1982 to January ... BeFree 20850175 Detail
0.002 endometrial carcinoma Unselected Jewish women with EC who were diagnosed from January 1982 to January ... BeFree 20850175 Detail
0.009 uterine corpus cancer Unselected Jewish women with EC who were diagnosed from January 1982 to January ... BeFree 20850175 Detail
0.009 Malignant neoplasm of endometrium Unselected Jewish women with EC who were diagnosed from January 1982 to January ... BeFree 20850175 Detail
0.002 Malignant neoplasm of endometrium Unselected Jewish women with EC who were diagnosed from January 1982 to January ... BeFree 20850175 Detail
0.144 colorectal cancer Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with co... BeFree 17414604 Detail
0.332 Hereditary Nonpolyposis Colorectal Cancer The MSH2 A636P mutation is a founder mutation in Ashkenazi Jews that causes Lync... BeFree 21419771 Detail
0.012 Malignant neoplasm of endometrium High risk of colorectal and endometrial cancer in Ashkenazi families with the MS... BeFree 21419771 Detail
0.063 colorectal carcinoma Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with co... BeFree 17414604 Detail
0.012 Malignant neoplasm of endometrium Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashk... BeFree 18674656 Detail
0.144 colorectal cancer Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashk... BeFree 18674656 Detail
0.012 uterine corpus cancer Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashk... BeFree 18674656 Detail
0.332 Hereditary Nonpolyposis Colorectal Cancer A founder mutation A636P in the MSH2 gene was found to be related to hereditary ... BeFree 18674656 Detail
0.332 Hereditary Nonpolyposis Colorectal Cancer We previously described a founder mutation, MSH2*1906G &gt;C (A636P) that causes... BeFree 17414604 Detail
0.012 uterine corpus cancer High risk of colorectal and endometrial cancer in Ashkenazi families with the MS... BeFree 21419771 Detail
0.031 endometrial carcinoma High risk of colorectal and endometrial cancer in Ashkenazi families with the MS... BeFree 21419771 Detail
0.063 colorectal carcinoma Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashk... BeFree 18674656 Detail
0.031 endometrial carcinoma Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashk... BeFree 18674656 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) AND Lynch syndrome ClinVar Detail
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) AND not provided ClinVar Detail
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) AND Lynch syndrome 1 ClinVar Detail
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) AND multiple conditions ClinVar Detail
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) AND multiple conditions ClinVar Detail
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) AND multiple conditions ClinVar Detail
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro) AND Carcinoma of colon ClinVar Detail
NA DisGeNET Detail
In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations i... DisGeNET Detail
In addition, the rate of the I1307K APC missense mutation and the two predominant Jewish mutations i... DisGeNET Detail
NA DisGeNET Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... DisGeNET Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... DisGeNET Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... DisGeNET Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... DisGeNET Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... DisGeNET Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... DisGeNET Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... DisGeNET Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... DisGeNET Detail
Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped ... DisGeNET Detail
Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: rol... DisGeNET Detail
The MSH2 A636P mutation is a founder mutation in Ashkenazi Jews that causes Lynch syndrome, with a p... DisGeNET Detail
High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mut... DisGeNET Detail
Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: rol... DisGeNET Detail
Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women w... DisGeNET Detail
Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women w... DisGeNET Detail
Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women w... DisGeNET Detail
A founder mutation A636P in the MSH2 gene was found to be related to hereditary nonpolyposis colorec... DisGeNET Detail
We previously described a founder mutation, MSH2*1906G &gt;C (A636P) that causes HNPCC in 8/1345 (0.... DisGeNET Detail
High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mut... DisGeNET Detail
High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mut... DisGeNET Detail
Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women w... DisGeNET Detail
Genetic counseling and testing for the MSH2 A636P mutation is indicated for Ashkenazi Jewish women w... 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
rs63750875 dbSNP
Genome
hg19
Position
chr2:47,702,310-47,702,310
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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)
121410
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.236553825879253E-6
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