chr2:47416398:C>G Detail (hg38) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,643,537-47,643,537 View the variant detail on this assembly version.
hg38 chr2:47,416,398-47,416,398

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.1045C>G NP_000242.1:p.Pro349Ala
NM_001258281.1:c.847C>G NP_001245210.1:p.Pro283Ala
Ensemble ENST00000233146.7:c.1045C>G ENST00000233146.7:p.Pro349Ala
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 2022-08-09 criteria provided, conflicting interpretations Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2014-06-01 no assertion criteria provided Papillary renal cell carcinoma type 1 germline Detail
Conflicting interpretations of pathogenicity 2023-06-09 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Mismatch repair cancer syndrome 1,Lynch syndrome 1,Muir-Torré syndrome unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Mismatch repair cancer syndrome 1,Lynch syndrome 1,Muir-Torré syndrome unknown Detail
Uncertain significance 2018-10-31 criteria provided, single submitter Mismatch repair cancer syndrome 1,Lynch syndrome 1,Muir-Torré syndrome unknown Detail
Uncertain significance 2019-05-28 criteria provided, multiple submitters, no conflicts Lynch syndrome 1 germline unknown Detail
Likely benign 2024-01-31 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Conflicting interpretations of pathogenicity 2023-09-11 criteria provided, conflicting interpretations not specified germline Detail
Uncertain significance 2021-01-05 criteria provided, single submitter Hereditary nonpolyposis colon cancer somatic Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.332 Hereditary Nonpolyposis Colorectal Cancer NA CLINVAR Detail
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) AND not provided ClinVar Detail
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) AND multiple conditions ClinVar Detail
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) AND multiple conditions ClinVar Detail
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) AND multiple conditions ClinVar Detail
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) AND Lynch syndrome 1 ClinVar Detail
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) AND not specified ClinVar Detail
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) AND Hereditary nonpolyposis colon cancer ClinVar Detail
NA DisGeNET Detail
NA 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
rs267607939 dbSNP
Genome
hg38
Position
chr2:47,416,398-47,416,398
Variant Type
snv
Reference Allele
C
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)
121390
Allele Counts in All Race (ExAC)
11
Heterozygous Counts in All Race (ExAC)
11
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.061701952384875E-5
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