NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000489327.1

Allele description [Variation Report for NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr)]

NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr)
HGVS:
  • NC_000013.11:g.23334590C>T
  • NG_012342.1:g.104113G>A
  • NM_001278055.2:c.8845G>A
  • NM_014363.6:c.9286G>AMANE SELECT
  • NP_001264984.1:p.Ala2949Thr
  • NP_055178.3:p.Ala3096Thr
  • NC_000013.10:g.23908729C>T
  • NM_014363.4:c.9286G>A
Protein change:
A2949T
Links:
dbSNP: rs1085307569
NCBI 1000 Genomes Browser:
rs1085307569
Molecular consequence:
  • NM_001278055.2:c.8845G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.9286G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000576738GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 20, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000576738.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The A3096T variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A3096T variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A3096T variant is a non-conservative amino acid substitution, which occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret A3096T as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 27, 2021

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