NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 13, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000197092.2

Allele description [Variation Report for NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly)]

NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly)

Gene:
PDHX:pyruvate dehydrogenase complex component X [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly)
Other names:
p.D351G:GAT>GGT
HGVS:
  • NC_000011.10:g.34984598A>G
  • NG_013368.1:g.73469A>G
  • NM_001135024.1:c.1007A>G
  • NM_001166158.1:c.371A>G
  • NM_003477.3:c.1052A>GMANE SELECT
  • NP_001128496.1:p.Asp336Gly
  • NP_001159630.1:p.Asp124Gly
  • NP_003468.2:p.Asp351Gly
  • NC_000011.9:g.35006145A>G
  • NM_003477.2:c.1052A>G
Protein change:
D124G
Links:
dbSNP: rs200866298
NCBI 1000 Genomes Browser:
rs200866298
Molecular consequence:
  • NM_001135024.1:c.1007A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166158.1:c.371A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003477.3:c.1052A>G - 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
SCV000252065GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 13, 2018)
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, SCV000252065.11

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

Description

p.Asp351Gly (GAT>GGT): c.1052 A>G in exon 9 of the PDHX gene (NM_003477.2) A variant of unknown significance has been identified in the PDHX gene. The D351G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The D315G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to 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: Oct 8, 2021

Support Center