NM_014363.6(SACS):c.382_383del (p.Glu128fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 2, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001289169.1

Allele description [Variation Report for NM_014363.6(SACS):c.382_383del (p.Glu128fs)]

NM_014363.6(SACS):c.382_383del (p.Glu128fs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
HGVS:
  • NC_000013.11:g.23365241_23365242del
  • NG_012342.1:g.73462_73463del
  • NM_001278055.2:c.-60_-59del
  • NM_014363.6:c.382_383delMANE SELECT
  • NP_055178.3:p.Glu128fs
  • NC_000013.10:g.23939380_23939381del
  • NM_014363.4:c.382_383del
  • NM_014363.5:c.382_383del
Protein change:
E128fs
Molecular consequence:
  • NM_001278055.2:c.-60_-59del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_014363.6:c.382_383del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001476815Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Jul 2, 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, SCV001476815.1

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

Description

The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and found in general population data at a frequency that is consistent with pathogenicity.

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

Last Updated: Jan 30, 2021

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