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NM_014363.6(SACS):c.7079_7081del (p.Ser2360del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 10, 2018)
Last evaluated:
May 15, 2017
Accession:
VCV000551744.1
Variation ID:
551744
Description:
3bp deletion
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NM_014363.6(SACS):c.7079_7081del (p.Ser2360del)

Allele ID
547089
Variant type
Deletion
Variant length
3 bp
Cytogenetic location
13q12.12
Genomic location
13: 23336795-23336797 (GRCh38) GRCh38 UCSC
13: 23910934-23910936 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23910936_23910938del
NC_000013.11:g.23336797_23336799del
NG_012342.1:g.101906_101908del
... more HGVS
Protein change
S2360del, S2213del
Other names
-
Canonical SPDI
NC_000013.11:23336794:AAGAA:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1555251573
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 May 15, 2017 RCV000666881.1
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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
Uncertain significance
(May 15, 2017)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000791249.1
Submitted: (Jul 10, 2018)
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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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 rs1555251573...

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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 08, 2021