NM_014363.6(SACS):c.1672C>T (p.Gln558Ter) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Nov 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000627327.2

Allele description [Variation Report for NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)]

NM_014363.6(SACS):c.1672C>T (p.Gln558Ter)

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.1672C>T (p.Gln558Ter)
HGVS:
  • NC_000013.11:g.23354940G>A
  • NG_012342.1:g.83763C>T
  • NM_001278055.2:c.1231C>T
  • NM_014363.6:c.1672C>TMANE SELECT
  • NP_001264984.1:p.Gln411Ter
  • NP_055178.3:p.Gln558Ter
  • NC_000013.10:g.23929079G>A
  • NM_014363.4:c.1672C>T
  • NM_014363.5:c.1672C>T
Protein change:
Q411*
Links:
dbSNP: rs923921184
NCBI 1000 Genomes Browser:
rs923921184
Molecular consequence:
  • NM_001278055.2:c.1231C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.1672C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000748319GeneDxcriteria provided, single submitter
Likely pathogenic
(Nov 7, 2019)
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, SCV000748319.4

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 2, 2021

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