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.1507C>G (p.Leu503Val)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 18, 2018
Accession:
VCV000627706.2
Variation ID:
627706
Description:
single nucleotide variant
Help

NM_000251.2(MSH2):c.1507C>G (p.Leu503Val)

Allele ID
616634
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 47463151 (GRCh38) GRCh38 UCSC
2: 47690290 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.47690290C>G
NC_000002.12:g.47463151C>G
NM_000251.2:c.1507C>G NP_000242.1:p.Leu503Val missense
... more HGVS
Protein change
L503V
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1553365825
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 Oct 18, 2018 RCV000771427.1
Uncertain significance 1 criteria provided, single submitter Sep 27, 2018 RCV000807940.1
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
(Oct 18, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000903791.1
Submitted: (Nov 06, 2018)
Evidence details
Uncertain significance
(Sep 27, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colon cancer
Allele origin: germline
Invitae
Accession: SCV000948020.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces leucine with valine at codon 503 of the MSH2 protein (p.Leu503Val). The leucine 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