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NM_000251.2(MSH2):c.1530G>C (p.Gln510His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 30, 2018
Accession:
VCV000182563.4
Variation ID:
182563
Description:
single nucleotide variant
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NM_000251.2(MSH2):c.1530G>C (p.Gln510His)

Allele ID
180014
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p21
Genomic location
2: 47466677 (GRCh38) GRCh38 UCSC
2: 47693816 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.47693816G>C
NC_000002.12:g.47466677G>C
NM_001258281.1:c.1332G>C NP_001245210.1:p.Gln444His missense
... more HGVS
Protein change
Q510H
Other names
p.Q510H:CAG>CAC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA018560
dbSNP: rs587782355
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Jul 13, 2018 RCV000160591.6
Uncertain significance 1 criteria provided, single submitter Aug 2, 2018 RCV000235175.2
Uncertain significance 1 criteria provided, single submitter Oct 30, 2018 RCV000548522.4
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 03, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000214490.4
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient or conflicting evidence
Uncertain significance
(Aug 02, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000211186.12
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted MSH2 c.1530G>C at the cDNA level, p.Gln510His (Q510H) at the protein level, and results in the change of a Glutamine to ... (more)
Uncertain significance
(Jul 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000911171.1
Submitted: (Nov 06, 2018)
Evidence details
Uncertain significance
(Oct 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colon cancer
Allele origin: germline
Invitae
Accession: SCV000625279.4
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces glutamine with histidine at codon 510 of the MSH2 protein (p.Gln510His). The glutamine residue is weakly conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. Ring KL Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2016 PMID: 27443514

Record last updated Oct 27, 2019