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NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 7, 2019
Accession:
VCV000370608.3
Variation ID:
370608
Description:
2bp deletion
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NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)

Allele ID
358205
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
13q12.12
Genomic location
13: 23355422-23355423 (GRCh38) GRCh38 UCSC
13: 23929561-23929562 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23929561_23929562del
NC_000013.11:g.23355422_23355423del
NG_012342.1:g.83280_83281del
... more HGVS
Protein change
S250fs, S397fs
Other names
-
Canonical SPDI
NC_000013.11:23355421:CT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA16041654
dbSNP: rs1057516625
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 criteria provided, single submitter Mar 10, 2016 RCV000409079.1
Pathogenic 1 criteria provided, single submitter Nov 7, 2019 RCV001243148.2
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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
Likely pathogenic
(Mar 10, 2016)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Counsyl
Accession: SCV000485969.1
Submitted: (Nov 23, 2016)
Evidence details
Pathogenic
(Nov 07, 2019)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001416285.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change creates a premature translational stop signal (p.Ser397Cysfs*8) in the SACS gene. It is expected to result in an absent or disrupted protein … (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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Title Author Journal Year Link
Mutations in SACS cause atypical and late-onset forms of ARSACS. Baets J Neurology 2010 PMID: 20876471
ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Vermeer S Neurogenetics 2008 PMID: 18465152

Text-mined citations for rs1057516625...

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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