NM_014363.6(SACS):c.8108G>A (p.Arg2703His) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 5, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001576889.3

Allele description [Variation Report for NM_014363.6(SACS):c.8108G>A (p.Arg2703His)]

NM_014363.6(SACS):c.8108G>A (p.Arg2703His)

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.8108G>A (p.Arg2703His)
HGVS:
  • NC_000013.11:g.23335768C>T
  • NG_012342.1:g.102935G>A
  • NM_001278055.2:c.7667G>A
  • NM_014363.6:c.8108G>AMANE SELECT
  • NP_001264984.1:p.Arg2556His
  • NP_055178.3:p.Arg2703His
  • NC_000013.10:g.23909907C>T
  • NM_014363.4:c.8108G>A
Protein change:
R2556H
Links:
dbSNP: rs750181262
NCBI 1000 Genomes Browser:
rs750181262
Molecular consequence:
  • NM_001278055.2:c.7667G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.8108G>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
SCV001804162GeneDxcriteria provided, single submitter
Uncertain significance
(Jan 5, 2021)
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, SCV001804162.1

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

Description

Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 26288984, 29482223)

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

Last Updated: Sep 29, 2021

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