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NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2019
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:
RCV001820019.4

Allele description [Variation Report for NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)]

NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)

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.8716C>T (p.Arg2906Ter)
HGVS:
  • NC_000013.11:g.23335160G>A
  • NG_012342.1:g.103543C>T
  • NM_001278055.2:c.8275C>T
  • NM_014363.6:c.8716C>TMANE SELECT
  • NP_001264984.1:p.Arg2759Ter
  • NP_055178.3:p.Arg2906Ter
  • NC_000013.10:g.23909299G>A
  • NM_014363.4:c.8716C>T
  • NM_014363.5:c.8716C>T
Protein change:
R2759*
Links:
dbSNP: rs750732115
NCBI 1000 Genomes Browser:
rs750732115
Molecular consequence:
  • NM_001278055.2:c.8275C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.8716C>T - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
No function

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002064490Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 1, 2019) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV002064490.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

DNA sequence analysis of the SACS gene demonstrated the pathogenic sequence change, c.8716C>T, which results in the creation of a premature stop codon at amino acid position 2906, p.Arg2906*. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated SACS protein with potentially abnormal function. This pathogenic sequence change has not been described in a patient with SACS-related ataxia. This sequence change has been described in the gnomAD database with a low population frequency of 0.0012% (rs750732115).

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

Last Updated: Sep 29, 2024