NM_014363.6(SACS):c.8899C>A (p.Arg2967Ser) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Feb 26, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000441442.2

Allele description [Variation Report for NM_014363.6(SACS):c.8899C>A (p.Arg2967Ser)]

NM_014363.6(SACS):c.8899C>A (p.Arg2967Ser)

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.8899C>A (p.Arg2967Ser)
HGVS:
  • NC_000013.11:g.23334977G>T
  • NG_012342.1:g.103726C>A
  • NM_001278055.2:c.8458C>A
  • NM_014363.6:c.8899C>AMANE SELECT
  • NP_001264984.1:p.Arg2820Ser
  • NP_055178.3:p.Arg2967Ser
  • NC_000013.10:g.23909116G>T
  • NM_014363.4:c.8899C>A
Protein change:
R2820S
Links:
dbSNP: rs746834684
NCBI 1000 Genomes Browser:
rs746834684
Molecular consequence:
  • NM_001278055.2:c.8458C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.8899C>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
SCV000535031GeneDxcriteria provided, single submitter
Uncertain significance
(Feb 26, 2018)
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, SCV000535031.4

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

Description

The R2967S variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R2967S variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R2967S variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species, however, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret R2967S 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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