NM_001931.5(DLAT):c.1542G>A (p.Ala514=) AND not provided

Germline classification:: Likely benign (1 submission)
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:: RCV004705689.1

Allele description [Variation Report for NM_001931.5(DLAT):c.1542G>A (p.Ala514=)]

NM_001931.5(DLAT):c.1542G>A (p.Ala514=)

Genes:

PIH1D2:PIH1 domain containing 2 [Gene - HGNC]
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.1542G>A (p.Ala514=)

HGVS:

NC_000011.10:g.112059930G>A
NG_013342.1:g.40117G>A
NM_001372031.1:c.1560G>A
NM_001372032.1:c.1536G>A
NM_001372033.1:c.1521G>A
NM_001372034.1:c.1509G>A
NM_001372035.1:c.1434G>A
NM_001372036.1:c.1416G>A
NM_001372037.1:c.1374G>A
NM_001372038.1:c.1263G>A
NM_001372039.1:c.1227G>A
NM_001372040.1:c.1161G>A
NM_001372041.1:c.1119G>A
NM_001372042.1:c.1080G>A
NM_001931.5:c.1542G>AMANE SELECT
NP_001358960.1:p.Ala520=
NP_001358961.1:p.Ala512=
NP_001358962.1:p.Ala507=
NP_001358963.1:p.Ala503=
NP_001358964.1:p.Ala478=
NP_001358965.1:p.Ala472=
NP_001358966.1:p.Ala458=
NP_001358967.1:p.Ala421=
NP_001358968.1:p.Ala409=
NP_001358969.1:p.Ala387=
NP_001358970.1:p.Ala373=
NP_001358971.1:p.Ala360=
NP_001922.2:p.Ala514=
NP_001922.2:p.Ala514=
NC_000011.9:g.111930654G>A
NM_001931.4:c.1542G>A
NR_164072.1:n.1419G>A

Links:

dbSNP: rs587652725

NCBI 1000 Genomes Browser:

rs587652725

Molecular consequence:

NR_164072.1:n.1419G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001372031.1:c.1560G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001372032.1:c.1536G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001372033.1:c.1521G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001372034.1:c.1509G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001372035.1:c.1434G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001372036.1:c.1416G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001372037.1:c.1374G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001372038.1:c.1263G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001372039.1:c.1227G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001372040.1:c.1161G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001372041.1:c.1119G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001372042.1:c.1080G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001931.5:c.1542G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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nuclear receptor coactivator 4 isoform 3 [Homo sapiens]
nuclear receptor coactivator 4 isoform 3 [Homo sapiens]
gi|223890287|ref|NP_001138735.1|

Protein
PREDICTED: Parambassis ranga myosin-7-like (LOC114435693), transcript variant X2...
PREDICTED: Parambassis ranga myosin-7-like (LOC114435693), transcript variant X2, mRNA
gi|1591544933|ref|XM_028405593.1|

Nucleotide
pufM protein, partial [Thiocapsa rosea]
pufM protein, partial [Thiocapsa rosea]
gi|260161177|emb|CAX62358.1|

Protein
pufL protein, partial [Thiocapsa rosea]
pufL protein, partial [Thiocapsa rosea]
gi|260161176|emb|CAX62357.1|

Protein
PREDICTED: Homo sapiens ess-2 splicing factor homolog (ESS2), transcript variant...
PREDICTED: Homo sapiens ess-2 splicing factor homolog (ESS2), transcript variant X4, mRNA
gi|2217340238|ref|XM_047441524.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005219619	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005219619

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign

germline

not provided

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	yes	not provided	not provided	not provided	not provided	not provided	not provided

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 Breakthrough Genomics, Breakthrough Genomics, SCV005219619.1

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

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

Last Updated: Nov 10, 2024

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