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NM_000925.4(PDHB):c.937C>G (p.Pro313Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 11, 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:
RCV000199882.2

Allele description [Variation Report for NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)]

NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)

Gene:
PDHB:pyruvate dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p14.3
Genomic location:
Preferred name:
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)
HGVS:
  • NC_000003.12:g.58428177G>C
  • NG_016860.1:g.10676C>G
  • NM_000925.4:c.937C>GMANE SELECT
  • NM_001173468.2:c.883C>G
  • NM_001315536.2:c.883C>G
  • NP_000916.2:p.Pro313Ala
  • NP_001166939.1:p.Pro295Ala
  • NP_001302465.1:p.Pro295Ala
  • NC_000003.11:g.58413904G>C
  • NM_000925.3:c.937C>G
  • NR_033384.2:n.1043C>G
  • p.P313A
Protein change:
P295A
Links:
dbSNP: rs201105914
NCBI 1000 Genomes Browser:
rs201105914
Molecular consequence:
  • NM_000925.4:c.937C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173468.2:c.883C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315536.2:c.883C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_033384.2:n.1043C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000252052GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 11, 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, SCV000252052.11

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

Description

p.Pro313Ala (CCT>GCT): c.937 C>G in exon 10 of the PDHB gene (NM_000925.3). The P313A missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is semi-conservative in that both Proline and Alanine are uncharged, non-polar amino acids, but the loss of Proline with its unique ring structure could affect the secondary structure of the PDHB protein. This change occurs at a highly conserved position in the PDHB protein, and a missense mutation at a nearby position (D319V) has been reported in association with pyruvate dehydrogenase deficiency. In-silico analyses are inconsistent in their predictions of whether or not P313A is damaging to the PDHB protein. Therefore, based on the currently available information, it is unclear whether P313A 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