NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000200467.4

Allele description [Variation Report for NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)]

NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)

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.1159A>C (p.Lys387Gln)
Other names:
p.K387Q:AAG>CAG
HGVS:
  • NC_000023.11:g.19359639A>C
  • NG_016781.1:g.20747A>C
  • NG_021184.1:g.160623T>G
  • NM_000284.4:c.1159A>CMANE SELECT
  • NM_001173454.2:c.1273A>C
  • NM_001173455.2:c.1180A>C
  • NM_001173456.2:c.1066A>C
  • NP_000275.1:p.Lys387Gln
  • NP_001166925.1:p.Lys425Gln
  • NP_001166926.1:p.Lys394Gln
  • NP_001166927.1:p.Lys356Gln
  • NC_000023.10:g.19377757A>C
  • NM_000284.3:c.1159A>C
Protein change:
K356Q
Links:
dbSNP: rs201156613
NCBI 1000 Genomes Browser:
rs201156613
Molecular consequence:
  • NM_000284.4:c.1159A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173454.2:c.1273A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173455.2:c.1180A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173456.2:c.1066A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000252035GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 28, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000252035.13

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

Description

p.Lys387Gln (AAG>CAG): c.1159 A>C in exon 11 of the PDHA1 gene (NM_000284.3). A variant of unknown significance has been identified in the PDHA1 gene. The K387Q variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The K387Q variant was not observed with any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The K387Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic 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: Nov 27, 2021

Support Center