NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) AND Pyruvate dehydrogenase E2 deficiency

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 13, 2024
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:: RCV000962443.9

Allele description [Variation Report for NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)]

NM_001931.5(DLAT):c.928G>A (p.Glu310Lys)

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.928G>A (p.Glu310Lys)

Other names:

p.E310K:GAA>AAA

HGVS:

NC_000011.10:g.112037413G>A
NG_013342.1:g.17600G>A
NM_001372031.1:c.928G>A
NM_001372032.1:c.928G>A
NM_001372033.1:c.928G>A
NM_001372034.1:c.895G>A
NM_001372035.1:c.928G>A
NM_001372036.1:c.802G>A
NM_001372037.1:c.760G>A
NM_001372038.1:c.649G>A
NM_001372039.1:c.661-1831G>A
NM_001372040.1:c.547G>A
NM_001372041.1:c.661-1831G>A
NM_001372042.1:c.466G>A
NM_001931.5:c.928G>AMANE SELECT
NP_001358960.1:p.Glu310Lys
NP_001358961.1:p.Glu310Lys
NP_001358962.1:p.Glu310Lys
NP_001358963.1:p.Glu299Lys
NP_001358964.1:p.Glu310Lys
NP_001358965.1:p.Glu268Lys
NP_001358966.1:p.Glu254Lys
NP_001358967.1:p.Glu217Lys
NP_001358969.1:p.Glu183Lys
NP_001358971.1:p.Glu156Lys
NP_001922.2:p.Glu310Lys
NP_001922.2:p.Glu310Lys
NC_000011.9:g.111908137G>A
NM_001931.4:c.928G>A

Protein change:

E156K

Links:

dbSNP: rs116125936

NCBI 1000 Genomes Browser:

rs116125936

Molecular consequence:

NM_001372039.1:c.661-1831G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001372041.1:c.661-1831G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001372031.1:c.928G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001372032.1:c.928G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001372033.1:c.928G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001372034.1:c.895G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001372035.1:c.928G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001372036.1:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001372037.1:c.760G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001372038.1:c.649G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001372040.1:c.547G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001372042.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001931.5:c.928G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pyruvate dehydrogenase E2 deficiency (PDHDD)
Synonyms:: LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX; Dihydrolipoamide Acetyltransferase (E2) Deficiency
Identifiers:: MONDO: MONDO:0009502; MedGen: C1855565; Orphanet: 765; Orphanet: 79244; OMIM: 245348

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001109524	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 13, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001109524

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 13, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001109524.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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