NM_000284.4(PDHA1):c.738C>T (p.Gly246=) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: May 5, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000498403.1

Allele description [Variation Report for NM_000284.4(PDHA1):c.738C>T (p.Gly246=)]

NM_000284.4(PDHA1):c.738C>T (p.Gly246=)

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.738C>T (p.Gly246=)
HGVS:
  • NC_000023.11:g.19355483C>T
  • NG_016781.1:g.16591C>T
  • NM_000284.4:c.738C>TMANE SELECT
  • NM_001173454.2:c.852C>T
  • NM_001173455.2:c.759C>T
  • NM_001173456.2:c.645C>T
  • NP_000275.1:p.Gly246=
  • NP_001166925.1:p.Gly284=
  • NP_001166926.1:p.Gly253=
  • NP_001166927.1:p.Gly215=
  • NC_000023.10:g.19373601C>T
  • NM_000284.3:c.738C>T
Links:
dbSNP: rs1555934379
NCBI 1000 Genomes Browser:
rs1555934379
Molecular consequence:
  • NM_000284.4:c.738C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001173454.2:c.852C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001173455.2:c.759C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001173456.2:c.645C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000589848GeneDxcriteria provided, single submitter
Likely pathogenic
(May 5, 2016)
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, SCV000589848.3

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

Description

The c.738C>T variant in the PDHA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.738C>T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple in silico algorithms predict that c.738C>T may create a cryptic donor site upstream of the natural donor site of intron 7. However, in the absence of RNA/functional studies, the actual effect of c.738C>T is unknown. The c.738C>T variant is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.

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

Last Updated: Nov 27, 2021

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