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NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 15, 2021)
Last evaluated:
Sep 13, 2020
Accession:
VCV001027860.4
Variation ID:
1027860
Description:
single nucleotide variant
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NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)

Allele ID
1017734
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23335160 (GRCh38) GRCh38 UCSC
13: 23909299 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23909299G>A
NC_000013.11:g.23335160G>A
NM_014363.6:c.8716C>T MANE Select NP_055178.3:p.Arg2906Ter nonsense
... more HGVS
Protein change
R2906*, R2759*
Other names
-
Canonical SPDI
NC_000013.11:23335159:G:A
Functional consequence
No function
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs750732115
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Mar 1, 2020 RCV001328754.3
Pathogenic 1 criteria provided, single submitter Sep 13, 2020 RCV001386448.1
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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
(Dec 26, 2019)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: unknown
Baylor Genetics
Accession: SCV001519944.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Pathogenic
(Sep 13, 2020)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001586676.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the SACS gene (p.Arg2906*). While this is not anticipated to result in nonsense mediated … (more)
Pathogenic
(Mar 01, 2020)
criteria provided, single submitter
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
(Autosomal recessive inheritance)
Allele origin: inherited
Medical Genetics Laboratory,Tarbiat Modares University
Accession: SCV001622770.1
Submitted: (May 20, 2021)
Evidence details
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Charlevoix-Saguenay spastic ataxia
Allele origin: germline
Genomics England Pilot Project,Genomics England
Accession: SCV001760320.1
Submitted: (Jul 15, 2021)
Evidence details

Functional evidence

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Functional consequence Method Result Submitter Supporting information
No function
Medical Genetics Laboratory,Tarbiat Modares University
Accession: SCV001622770.1
Submitted: (May 20, 2021)
Evidence details

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 rs750732115...

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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 Jul 27, 2021