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NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 21, 2021)
Last evaluated:
Mar 1, 2020
Accession:
VCV001098924.1
Variation ID:
1098924
Description:
single nucleotide variant
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NM_014363.6(SACS):c.8132C>A (p.Ser2711Ter)

Allele ID
1087670
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23335744 (GRCh38) GRCh38 UCSC
13: 23909883 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23909883G>T
NC_000013.11:g.23335744G>T
NG_012342.1:g.102959C>A
... more HGVS
Protein change
S2564*, S2711*
Other names
-
Canonical SPDI
NC_000013.11:23335743:G:T
Functional consequence
No function
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 1, 2020 RCV001421041.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SACS - - GRCh38
GRCh37
1808 1900

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 01, 2020)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
(Autosomal recessive inheritance)
Allele origin: inherited
Medical Genetics Laboratory,Tarbiat Modares University
Accession: SCV001622586.1
Submitted: (May 21, 2021)
Evidence details

Functional evidence

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Functional consequence Method Result Submitter Supporting information
No function
Medical Genetics Laboratory,Tarbiat Modares University
Accession: SCV001622586.1
Submitted: (May 21, 2021)
Evidence details

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.

Record last updated Oct 08, 2021