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NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Feb 6, 2020)
Last evaluated:
Dec 18, 2019
Accession:
VCV000586425.3
Variation ID:
586425
Description:
single nucleotide variant
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NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)

Allele ID
577327
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q12.12
Genomic location
13: 23354588 (GRCh38) GRCh38 UCSC
13: 23928727 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.23928727T>C
NC_000013.11:g.23354588T>C
NG_012342.1:g.84115A>G
... more HGVS
Protein change
N675S, N528S
Other names
-
Canonical SPDI
NC_000013.11:23354587:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00003
The Genome Aggregation Database (gnomAD) 0.00006
1000 Genomes Project 0.00020
Links
dbSNP: rs146395198
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 Nov 17, 2017 RCV000712965.2
Uncertain significance 1 criteria provided, single submitter Dec 18, 2019 RCV001244618.1
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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
1807 1899

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 17, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000843525.1
Submitted: (Aug 31, 2018)
Evidence details
Uncertain significance
(Dec 18, 2019)
criteria provided, single submitter
Method: clinical testing
Spastic paraplegia
Allele origin: germline
Invitae
Accession: SCV001417850.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces asparagine with serine at codon 675 of the SACS protein (p.Asn675Ser). The asparagine residue is weakly conserved and there is a … (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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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 rs146395198...

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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 Sep 29, 2021