NM_014363.6(SACS):c.11737G>C (p.Asp3913His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000494097.1

Allele description [Variation Report for NM_014363.6(SACS):c.11737G>C (p.Asp3913His)]

NM_014363.6(SACS):c.11737G>C (p.Asp3913His)

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.11737G>C (p.Asp3913His)
HGVS:
  • NC_000013.11:g.23332139C>G
  • NG_012342.1:g.106564G>C
  • NM_001278055.2:c.11296G>C
  • NM_014363.6:c.11737G>CMANE SELECT
  • NP_001264984.1:p.Asp3766His
  • NP_055178.3:p.Asp3913His
  • NC_000013.10:g.23906278C>G
  • NM_014363.4:c.11737G>C
Protein change:
D3766H
Links:
dbSNP: rs746782589
NCBI 1000 Genomes Browser:
rs746782589
Molecular consequence:
  • NM_001278055.2:c.11296G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.11737G>C - 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
SCV000582594GeneDxcriteria provided, single submitter
Uncertain significance
(May 16, 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, SCV000582594.4

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

Description

The D3913H variant in the SACS gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D3913H variant is observed in 6/11570 (0.052%) alleles from individuals of Latino background, in the ExAC dataset (Lek et al., 2016). The D3913H 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 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 D3913H 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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