chr2:47710069:G>A Detail (hg19) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,710,069-47,710,069
hg38 chr2:47,482,930-47,482,930 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.2786G>A NP_000242.1:p.Arg929Gln
NM_001258281.1:c.2588G>A NP_001245210.1:p.Arg863Gln
Ensemble ENST00000233146.7:c.2786G>A ENST00000233146.7:p.Arg929Gln
Summary

MGeND

Clinical significance Uncertain significance not provided
Variant entry 2
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 COSM1021253 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance Hepatocellular carcinoma (morphologic abnormality) unknown MGS000025
(TMGS000084) 		Manabu Muto Kyoto University
not provided colon, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-19 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
Uncertain significance 2023-07-17 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Conflicting interpretations of pathogenicity 2023-03-21 criteria provided, conflicting interpretations Lynch syndrome 1 unknown Detail
Uncertain significance 2020-02-27 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2023-10-30 criteria provided, single submitter Lynch syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln) AND Hereditary nonpolyposis colorectal neoplasms ClinVar Detail
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln) AND Lynch syndrome 1 ClinVar Detail
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln) AND not provided ClinVar Detail
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln) AND Lynch syndrome ClinVar 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
rs587779967 dbSNP
Genome
hg19
Position
chr2:47,710,069-47,710,069
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8452
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)
113696
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)
8.795384182381086E-6
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