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NM_000118.3(ENG):c.1479C>A (p.Cys493Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Nov 29, 2016)
Accession:
VCV000444099.1
Variation ID:
444099
Description:
single nucleotide variant
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NM_000118.3(ENG):c.1479C>A (p.Cys493Ter)

Allele ID
437737
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 127818327 (GRCh38) GRCh38 UCSC
9: 130580606 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.130580606G>T
NC_000009.12:g.127818327G>T
NM_000118.3:c.1479C>A NP_000109.1:p.Cys493Ter nonsense
... more HGVS
Protein change
C493*, C311*
Other names
-
Canonical SPDI
NC_000009.12:127818326:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA374975894
dbSNP: rs1197761705
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided - RCV000513296.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ENG Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
591 884
LOC102723566 - - - GRCh38 - 269

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Hereditary hemorrhagic telangiectasia
Allele origin: somatic
Genetics,Medical University of Vienna
Accession: SCV000346038.1
Submitted: (Nov 29, 2016)
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
Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort. Koenighofer M Clinical and experimental otorhinolaryngology 2019 PMID: 31220907

Text-mined citations for rs1197761705...

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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 Apr 12, 2021