NM_014363.6(SACS):c.712A>T (p.Lys238Ter) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 27, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000627299.1

Allele description [Variation Report for NM_014363.6(SACS):c.712A>T (p.Lys238Ter)]

NM_014363.6(SACS):c.712A>T (p.Lys238Ter)

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.712A>T (p.Lys238Ter)
HGVS:
  • NC_000013.11:g.23355900T>A
  • NG_012342.1:g.82803A>T
  • NM_001278055.2:c.271A>T
  • NM_014363.6:c.712A>TMANE SELECT
  • NP_001264984.1:p.Lys91Ter
  • NP_055178.3:p.Lys238Ter
  • NC_000013.10:g.23930039T>A
  • NM_014363.4:c.712A>T
Protein change:
K238*
Links:
dbSNP: rs764585158
NCBI 1000 Genomes Browser:
rs764585158
Molecular consequence:
  • NM_001278055.2:c.271A>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.712A>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000748291GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Mar 27, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000748291.3

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

Description

The K238X variant in the SACS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The K238X variant is not observed in large population cohorts (Lek et al., 2016). We interpret K238X as a likely pathogenic variant.

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

Last Updated: Apr 23, 2022