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NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 14, 2020
Accession:
VCV000522555.2
Variation ID:
522555
Description:
single nucleotide variant
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NM_014363.6(SACS):c.8579A>G (p.Asn2860Ser)

Allele ID
513168
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23335297 (GRCh38) GRCh38 UCSC
13: 23909436 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23909436T>C
NC_000013.11:g.23335297T>C
NG_012342.1:g.103406A>G
... more HGVS
Protein change
N2860S, N2713S
Other names
-
Canonical SPDI
NC_000013.11:23335296:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00011
The Genome Aggregation Database (gnomAD), exomes 0.00011
1000 Genomes Project 0.00060
Trans-Omics for Precision Medicine (TOPMed) 0.00020
The Genome Aggregation Database (gnomAD) 0.00013
Links
ClinGen: CA6910745
dbSNP: rs201294520
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 Jun 24, 2017 RCV000625698.1
Likely benign 1 criteria provided, single submitter Nov 14, 2020 RCV001439415.1
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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
(Jun 24, 2017)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
(Autosomal recessive inheritance)
Allele origin: unknown
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital
Accession: SCV000703301.1
Submitted: (Apr 17, 2018)
Evidence details
Comment:
The patient carry biallelic muation c.8579A>G p.(Asn2860Ser) and c.9723G>C p.(Glu3241Asp)
Likely benign
(Nov 14, 2020)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001642300.1
Submitted: (Jan 07, 2021)
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 rs201294520...

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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