NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Jan 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001289179.1

Allele description [Variation Report for NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)]

NM_014363.6(SACS):c.5428C>T (p.Gln1810Ter)

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.5428C>T (p.Gln1810Ter)
HGVS:
  • NC_000013.11:g.23338448G>A
  • NG_012342.1:g.100255C>T
  • NM_001278055.2:c.4987C>T
  • NM_014363.6:c.5428C>TMANE SELECT
  • NP_001264984.1:p.Gln1663Ter
  • NP_055178.3:p.Gln1810Ter
  • NC_000013.10:g.23912587G>A
  • NM_014363.4:c.5428C>T
  • NM_014363.5:c.5428C>T
Protein change:
Q1663*
Molecular consequence:
  • NM_001278055.2:c.4987C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014363.6:c.5428C>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
SCV001476828Athena Diagnostics Inccriteria provided, single submitter
Likely pathogenic
(Jan 16, 2020)
unknownclinical testing

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

Summary from all submissions

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

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV001476828.1

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

Description

The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Not found in the total gnomAD dataset, and the data is high quality.

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

Last Updated: May 10, 2021

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