NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Nov 3, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001507818.1

Allele description [Variation Report for NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)]

NM_014363.6(SACS):c.8336A>T (p.Gln2779Leu)

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.8336A>T (p.Gln2779Leu)
HGVS:
  • NC_000013.11:g.23335540T>A
  • NG_012342.1:g.103163A>T
  • NM_001278055.2:c.7895A>T
  • NM_014363.6:c.8336A>TMANE SELECT
  • NP_001264984.1:p.Gln2632Leu
  • NP_055178.3:p.Gln2779Leu
  • NC_000013.10:g.23909679T>A
  • NM_014363.5:c.8336A>T
  • p.Gln2779Leu
Protein change:
Q2632L
Molecular consequence:
  • NM_001278055.2:c.7895A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014363.6:c.8336A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001713618Mayo Clinic Laboratories, Mayo Cliniccriteria provided, single submitter
Uncertain significance
(Nov 3, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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 Mayo Clinic Laboratories, Mayo Clinic, SCV001713618.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 14, 2021

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