NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 6, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000489599.1

Allele description [Variation Report for NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg)]

NM_014363.6(SACS):c.8269G>A (p.Gly2757Arg)

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.8269G>A (p.Gly2757Arg)
HGVS:
  • NC_000013.11:g.23335607C>T
  • NG_012342.1:g.103096G>A
  • NM_001278055.2:c.7828G>A
  • NM_014363.6:c.8269G>AMANE SELECT
  • NP_001264984.1:p.Gly2610Arg
  • NP_055178.3:p.Gly2757Arg
  • NC_000013.10:g.23909746C>T
  • NM_014363.4:c.8269G>A
Protein change:
G2610R
Links:
dbSNP: rs1085307756
NCBI 1000 Genomes Browser:
rs1085307756
Molecular consequence:
  • NM_001278055.2:c.7828G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.8269G>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
SCV000577230GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 6, 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, SCV000577230.3

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

Description

The G2757R variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G2757R variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G2757R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G2757R 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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