Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000251.2(MSH2):c.233T>C (p.Val78Ala)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Aug 1, 2018
Accession:
VCV000660934.1
Variation ID:
660934
Description:
single nucleotide variant
Help

NM_000251.2(MSH2):c.233T>C (p.Val78Ala)

Allele ID
630088
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 47408422 (GRCh38) GRCh38 UCSC
2: 47635561 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.47635561T>C
NC_000002.12:g.47408422T>C
NM_000251.2:c.233T>C NP_000242.1:p.Val78Ala missense
... more HGVS
Protein change
V12A
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 1, 2018 RCV000818237.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MSH2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
3344 3401

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 01, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colon cancer
Allele origin: germline
Invitae
Accession: SCV000958838.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces valine with alanine at codon 78 of the MSH2 protein (p.Val78Ala). The valine residue is highly conserved and there is a ... (more)

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 27, 2019