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NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Jul 2, 2019
Accession:
VCV000140922.4
Variation ID:
140922
Description:
single nucleotide variant
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NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)

Allele ID
150636
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p16.3
Genomic location
2: 47800915 (GRCh38) GRCh38 UCSC
2: 48028054 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_219:g.22769C>T
LRG_219t1:c.2932C>T LRG_219p1:p.Gln978Ter
NC_000002.11:g.48028054C>T
... more HGVS
Protein change
Q978*, Q848*, Q676*
Other names
-
Canonical SPDI
NC_000002.12:47800914:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA011127
dbSNP: rs587781372
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 2, 2019 RCV000129185.3
Pathogenic 2 criteria provided, single submitter May 17, 2018 RCV000202022.1
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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
5678 5712

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 02, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000183920.7
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.Q978* pathogenic mutation (also known as c.2932C>T), located in coding exon 4 of the MSH6 gene, results from a C to T substitution at … (more)
Pathogenic
(May 17, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000779401.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This pathogenic variant is denoted MSH6 c.2932C>T at the cDNA level and p.Gln978Ter (Q978X) at the protein level. The substitution creates a nonsense variant, which … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000257230.1
Submitted: (Nov 19, 2015)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory. Cragun D Clinical genetics 2014 PMID: 24506336
Molecular and clinical characteristics of MSH6 germline variants detected in colorectal cancer patients. Terui H Oncology reports 2013 PMID: 24100870

Text-mined citations for rs587781372...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021