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NM_001931.5(DLAT):c.279+13C>A AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 19, 2016
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:
RCV000422967.1

Allele description [Variation Report for NM_001931.5(DLAT):c.279+13C>A]

NM_001931.5(DLAT):c.279+13C>A

Gene:
DLAT:dihydrolipoamide S-acetyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.1
Genomic location:
Preferred name:
NM_001931.5(DLAT):c.279+13C>A
HGVS:
  • NC_000011.10:g.112025764C>A
  • NG_013342.1:g.5951C>A
  • NM_001372031.1:c.279+13C>A
  • NM_001372032.1:c.279+13C>A
  • NM_001372033.1:c.279+13C>A
  • NM_001372034.1:c.279+13C>A
  • NM_001372035.1:c.279+13C>A
  • NM_001372036.1:c.238+13C>A
  • NM_001372037.1:c.111+140C>A
  • NM_001372038.1:c.279+13C>A
  • NM_001372039.1:c.279+13C>A
  • NM_001372040.1:c.279+13C>A
  • NM_001372041.1:c.279+13C>A
  • NM_001372042.1:c.-188+13C>A
  • NM_001931.5:c.279+13C>AMANE SELECT
  • NC_000011.9:g.111896488C>A
  • NM_001931.4:c.279+13C>A
Links:
dbSNP: rs187974706
NCBI 1000 Genomes Browser:
rs187974706
Molecular consequence:
  • NM_001372031.1:c.279+13C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372032.1:c.279+13C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372033.1:c.279+13C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372034.1:c.279+13C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372035.1:c.279+13C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372036.1:c.238+13C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372037.1:c.111+140C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372038.1:c.279+13C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372039.1:c.279+13C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372040.1:c.279+13C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372041.1:c.279+13C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001372042.1:c.-188+13C>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001931.5:c.279+13C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000523259GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Feb 19, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000523259.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024