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NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 24, 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:
RCV002563299.2

Allele description [Variation Report for NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln)]

NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln)

Gene:
PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln)
HGVS:
  • NC_000023.11:g.19349953G>A
  • NG_016781.1:g.11061G>A
  • NM_000284.3:c.134G>A
  • NM_000284.4:c.134G>AMANE SELECT
  • NM_001173454.2:c.248G>A
  • NM_001173455.2:c.134G>A
  • NM_001173456.2:c.134G>A
  • NP_000275.1:p.Arg45Gln
  • NP_001166925.1:p.Arg83Gln
  • NP_001166926.1:p.Arg45Gln
  • NP_001166927.1:p.Arg45Gln
  • NC_000023.10:g.19368071G>A
Protein change:
R45Q
Links:
dbSNP: rs144967854
NCBI 1000 Genomes Browser:
rs144967854
Molecular consequence:
  • NM_000284.4:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173454.2:c.248G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173455.2:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173456.2:c.134G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003678970Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 24, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003678970.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024