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NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 31, 2013
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:
RCV000197779.2

Allele description [Variation Report for NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg)]

NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg)

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.854A>G (p.Gln285Arg)
Other names:
p.Q285R:CAG>CGG
HGVS:
  • NC_000023.11:g.19357674A>G
  • NG_016781.1:g.18782A>G
  • NM_000284.4:c.854A>GMANE SELECT
  • NM_001173454.2:c.968A>G
  • NM_001173455.2:c.875A>G
  • NM_001173456.2:c.761A>G
  • NP_000275.1:p.Gln285Arg
  • NP_001166925.1:p.Gln323Arg
  • NP_001166926.1:p.Gln292Arg
  • NP_001166927.1:p.Gln254Arg
  • NC_000023.10:g.19375792A>G
  • NM_000284.3:c.854A>G
Protein change:
Q254R
Links:
dbSNP: rs373275701
NCBI 1000 Genomes Browser:
rs373275701
Molecular consequence:
  • NM_000284.4:c.854A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173454.2:c.968A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173455.2:c.875A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173456.2:c.761A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000252031GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Jul 31, 2013) 		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, SCV000252031.11

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

Description

p.Gln285Arg (CAG>CGG): c.854 A>G in exon 9 of the PDHA1 gene (NM_000284.3). A variant of unknown significance has been identified in the PDHA1 gene. The Q285R missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. Q285R is a non-conservative amino acid substitution as an uncharged Glutamine residue is replaced with a positively charged Arginine residue, and other published missense mutations have been reported in this region of the protein (M282V, R288H). The variant occurs at a position that is highly conserved through mammals, although Arginine is seen at this position in more distantly related species. In silico algorithms are not consistent in their prediction as to whether or not Q285R is damaging to the structure/function of the PDHA1 protein. Therefore, based on the currently available information, it is unclear whether Q285R is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).

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

Last Updated: Sep 29, 2024