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NM_014363.6(SACS):c.9846A>G (p.Pro3282=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000416834.15
Variation ID:
416834
Description:
single nucleotide variant
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NM_014363.6(SACS):c.9846A>G (p.Pro3282=)

Allele ID
399113
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23334030 (GRCh38) GRCh38 UCSC
13: 23908169 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23908169T>C
NC_000013.11:g.23334030T>C
NG_012342.1:g.104673A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:23334029:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00266
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00292
The Genome Aggregation Database (gnomAD), exomes 0.00292
Exome Aggregation Consortium (ExAC) 0.00334
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00306
Links
ClinGen: CA6910554
dbSNP: rs61753111
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 5 criteria provided, multiple submitters, no conflicts Nov 3, 2020 RCV000516893.11
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV001083576.2
Benign 1 no assertion criteria provided Sep 16, 2020 RCV001274922.1
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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
Benign
(Dec 18, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000614996.2
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (1)
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV000562828.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001148934.7
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Nov 03, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001803981.1
Submitted: (Aug 20, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 19779133)
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Charlevoix-Saguenay type spastic ataxia
Allele origin: germline
Natera, Inc.
Accession: SCV001459481.1
Submitted: (Dec 28, 2020)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001932386.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001966122.1
Submitted: (Sep 21, 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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Title Author Journal Year Link
Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene. Vermeer S The Journal of molecular diagnostics : JMD 2009 PMID: 19779133

Text-mined citations for rs61753111...

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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 07, 2021