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NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
May 29, 2016
Most recent Submission:
Nov 29, 2022
Last evaluated:
Mar 4, 2015
Accession:
VCV000230663.4
Variation ID:
230663
Description:
single nucleotide variant
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NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter)

Allele ID
236538
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q21.2
Genomic location
18: 51059892 (GRCh38) GRCh38 UCSC
18: 48586262 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_005359.6:c.931C>T MANE Select NP_005350.1:p.Gln311Ter nonsense
NC_000018.10:g.51059892C>T
NC_000018.9:g.48586262C>T
... more HGVS
Protein change
Q311*
Other names
-
Canonical SPDI
NC_000018.10:51059891:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10580984
dbSNP: rs876658694
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 Mar 4, 2015 RCV002310805.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SMAD4 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1836 1880

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Mar 04, 2015)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin: germline
Ambry Genetics
Accession: SCV000274291.6
First in ClinVar: May 29, 2016
Last updated: Nov 29, 2022
Comment:
The p.Q311* pathogenic mutation (also known as c.931C>T) located in coding exon 7 of the SMAD4 gene, results from a C to T substitution at … (more)
Number of individuals with the variant: 1

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

Text-mined citations for rs876658694...

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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 Jun 04, 2023