NM_001931.5(DLAT):c.109C>G (p.Arg37Gly) AND Pyruvate dehydrogenase E2 deficiency

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 18, 2022
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:: RCV001939439.6

Allele description [Variation Report for NM_001931.5(DLAT):c.109C>G (p.Arg37Gly)]

NM_001931.5(DLAT):c.109C>G (p.Arg37Gly)

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.109C>G (p.Arg37Gly)

HGVS:

NC_000011.10:g.112025581C>G
NG_013342.1:g.5768C>G
NM_001372031.1:c.109C>G
NM_001372032.1:c.109C>G
NM_001372033.1:c.109C>G
NM_001372034.1:c.109C>G
NM_001372035.1:c.109C>G
NM_001372036.1:c.68C>G
NM_001372037.1:c.68C>G
NM_001372038.1:c.109C>G
NM_001372039.1:c.109C>G
NM_001372040.1:c.109C>G
NM_001372041.1:c.109C>G
NM_001372042.1:c.-358C>G
NM_001931.4:c.109C>G
NM_001931.5:c.109C>GMANE SELECT
NP_001358960.1:p.Arg37Gly
NP_001358961.1:p.Arg37Gly
NP_001358962.1:p.Arg37Gly
NP_001358963.1:p.Arg37Gly
NP_001358964.1:p.Arg37Gly
NP_001358965.1:p.Ala23Gly
NP_001358966.1:p.Ala23Gly
NP_001358967.1:p.Arg37Gly
NP_001358968.1:p.Arg37Gly
NP_001358969.1:p.Arg37Gly
NP_001358970.1:p.Arg37Gly
NP_001922.2:p.Arg37Gly
NC_000011.9:g.111896305C>G
NR_164072.1:n.174C>G

Protein change:

A23G

Links:

dbSNP: rs183829292

NCBI 1000 Genomes Browser:

rs183829292

Molecular consequence:

NM_001372042.1:c.-358C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001372031.1:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001372032.1:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001372033.1:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001372034.1:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001372035.1:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001372036.1:c.68C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001372037.1:c.68C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001372038.1:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001372039.1:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001372040.1:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001372041.1:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001931.5:c.109C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_164072.1:n.174C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

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RNA polymerase II, partial [Campylothynnus sp. A RDP-2017]
RNA polymerase II, partial [Campylothynnus sp. A RDP-2017]
gi|1227251667|gb|ASQ43755.1|

Protein
RNA polymerase II, partial [Zaspilothynnus maturus]
RNA polymerase II, partial [Zaspilothynnus maturus]
gi|1227251695|gb|ASQ43769.1|

Protein
RNA polymerase II, partial [Thynnoturneria sp. A RDP-2017]
RNA polymerase II, partial [Thynnoturneria sp. A RDP-2017]
gi|1227251703|gb|ASQ43773.1|

Protein
RNA polymerase II, partial [Neozeleboria sp. A RDP-2017]
RNA polymerase II, partial [Neozeleboria sp. A RDP-2017]
gi|1227251697|gb|ASQ43770.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002230059	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Aug 18, 2022)	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

SCV002230059

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Aug 18, 2022)

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, SCV002230059.3

#	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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