NM_014363.6(SACS):c.2439_2440del (p.Val815fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 23, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000992783.2

Allele description [Variation Report for NM_014363.6(SACS):c.2439_2440del (p.Val815fs)]

NM_014363.6(SACS):c.2439_2440del (p.Val815fs)

Gene:
SACS:sacsin molecular chaperone [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
13q12.12
Genomic location:
Preferred name:
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
HGVS:
  • NC_000013.11:g.23341436_23341437del
  • NG_012342.1:g.97266_97267del
  • NM_001278055.2:c.1998_1999del
  • NM_014363.6:c.2439_2440delMANE SELECT
  • NP_001264984.1:p.Val668fs
  • NP_055178.3:p.Val815fs
  • NC_000013.10:g.23915575_23915576del
  • NM_014363.4:c.2439_2440del
  • NM_014363.4:c.2439_2440delAT
  • NM_014363.6:c.2439_2440delATMANE SELECT
Protein change:
V668fs
Links:
dbSNP: rs775059063
NCBI 1000 Genomes Browser:
rs775059063
Molecular consequence:
  • NM_001278055.2:c.1998_1999del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014363.6:c.2439_2440del - frameshift variant - [Sequence Ontology: SO:0001589]
Functional consequence:
No function

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001145324Athena Diagnostics Inccriteria provided, single submitter
Pathogenic
(Jul 8, 2019)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

SCV001448098Institute of Medical Genetics and Applied Genomics, University Hospital Tübingencriteria provided, single submitter
Pathogenic
(Oct 23, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot provided1not providedclinical testing

Citations

PubMed

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.

Hammer MB, Eleuch-Fayache G, Gibbs JR, Arepalli SK, Chong SB, Sassi C, Bouhlal Y, Hentati F, Amouri R, Singleton AB.

Eur J Neurol. 2013 Mar;20(3):486-492. doi: 10.1111/j.1468-1331.2012.03883.x. Epub 2012 Oct 9.

PubMed [citation]
PMID:
23043354
PMCID:
PMC4669564

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
See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics Inc, SCV001145324.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

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 symptomatic patient, and found in general population data that is consistent with pathogenicity.

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

From Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, SCV001448098.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 16, 2021

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