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NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 13, 2021)
Last evaluated:
Jul 11, 2016
Accession:
VCV000411690.2
Variation ID:
411690
Description:
4bp deletion
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NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)

Allele ID
399266
Variant type
Deletion
Variant length
4 bp
Cytogenetic location
13q12.12
Genomic location
13: 23334312-23334315 (GRCh38) GRCh38 UCSC
13: 23908451-23908454 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23908453_23908456del
NC_000013.11:g.23334314_23334317del
NG_012342.1:g.104388_104391del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:23334311:AAACAA:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16613883
dbSNP: rs1060503431
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 Jul 11, 2016 RCV000470443.1
Likely pathogenic 1 no assertion criteria provided Aug 7, 2020 RCV001283763.1
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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
(Jul 11, 2016)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV000552969.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change deletes 4 nucleotides from exon 10 of the SACS mRNA (c.9561_9564delGTTT), causing a frameshift at codon 3188. This creates a premature translational … (more)
Likely pathogenic
(Aug 07, 2020)
no assertion criteria provided
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: germline
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City
Accession: SCV001469132.1
Submitted: (Jan 13, 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 rs1060503431...

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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