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NM_005390.5(PDHA2):c.679A>G (p.Met227Val) AND Azoospermia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 2021
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001797092.1

Allele description [Variation Report for NM_005390.5(PDHA2):c.679A>G (p.Met227Val)]

NM_005390.5(PDHA2):c.679A>G (p.Met227Val)

Gene:
PDHA2:pyruvate dehydrogenase E1 subunit alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q22.3
Genomic location:
Preferred name:
NM_005390.5(PDHA2):c.679A>G (p.Met227Val)
Other names:
rs200969445; PDHA2, MET227VAL (rs200969445)
HGVS:
  • NC_000004.12:g.95840829A>G
  • NM_005390.5:c.679A>GMANE SELECT
  • NP_005381.1:p.Met227Val
  • NC_000004.11:g.96761980A>G
  • NM_005390.1:c.679A>G
Protein change:
M227V; MET227VAL
Links:
OMIM: 179061.0001; dbSNP: rs200969445
NCBI 1000 Genomes Browser:
rs200969445
Molecular consequence:
  • NM_005390.5:c.679A>G - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on protein activity [Variation Ontology: 0053]

Condition(s)

Name:
Azoospermia
Identifiers:
MONDO: MONDO:0100459; MeSH: D053713; MedGen: C0004509; Human Phenotype Ontology: HP:0000027

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002039182Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes
no assertion criteria provided
Pathogenic
(Dec 20, 2021) 		biparentalcase-control

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedbiparentalyes2not providednot providednot providednot providedcase-control

Details of each submission

From Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes, SCV002039182.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1biparentalyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Dec 24, 2023