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NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Apr 20, 2017
Accession:
VCV000426329.2
Variation ID:
426329
Description:
single nucleotide variant
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NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr)

Allele ID
415372
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23334590 (GRCh38) GRCh38 UCSC
13: 23908729 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23908729C>T
NC_000013.11:g.23334590C>T
NM_014363.6:c.9286G>A MANE Select NP_055178.3:p.Ala3096Thr missense
... more HGVS
Protein change
A3096T, A2949T
Other names
-
Canonical SPDI
NC_000013.11:23334589:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA387514775
dbSNP: rs1085307569
Varsome
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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 Apr 20, 2017 RCV000489327.1
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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
1807 1899

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 20, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000576738.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The A3096T variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The … (more)

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 rs1085307569...

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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 Feb 27, 2021