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NM_000179.2(MSH6):c.396G>C (p.Gln132His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
Mar 23, 2018
Accession:
VCV000219706.1
Variation ID:
219706
Description:
single nucleotide variant
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NM_000179.2(MSH6):c.396G>C (p.Gln132His)

Allele ID
221261
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p16.3
Genomic location
2: 47791062 (GRCh38) GRCh38 UCSC
2: 48018201 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.48018201G>C
NC_000002.12:g.47791062G>C
NM_000179.2:c.396G>C NP_000170.1:p.Gln132His missense
... more HGVS
Protein change
Q132H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA348670
dbSNP: rs864622216
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 23, 2018 RCV000204445.3
Uncertain significance 1 criteria provided, single submitter Feb 26, 2016 RCV000491965.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MSH6 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4042 4068

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 23, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary nonpolyposis colon cancer
Allele origin: germline
Invitae
Accession: SCV000259733.4
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glutamine with histidine at codon 132 of the MSH6 protein (p.Gln132His). The glutamine residue is highly conserved and there is a ... (more)
Uncertain significance
(Feb 26, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000580161.3
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)

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

Record last updated Oct 27, 2019