NM_000284.4(PDHA1):c.721_724dup (p.Tyr242Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2018
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:: RCV001091318.16

Allele description [Variation Report for NM_000284.4(PDHA1):c.721_724dup (p.Tyr242Ter)]

NM_000284.4(PDHA1):c.721_724dup (p.Tyr242Ter)

Gene:

PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xp22.12

Genomic location:

Preferred name:

NM_000284.4(PDHA1):c.721_724dup (p.Tyr242Ter)

HGVS:

NC_000023.11:g.19355466_19355469dup
NG_016781.1:g.16574_16577dup
NM_000284.4:c.721_724dupMANE SELECT
NM_001173454.2:c.835_838dup
NM_001173455.2:c.742_745dup
NM_001173456.2:c.628_631dup
NP_000275.1:p.Tyr242Ter
NP_001166925.1:p.Tyr280Ter
NP_001166926.1:p.Tyr249Ter
NP_001166927.1:p.Tyr211Ter
NC_000023.10:g.19373584_19373587dup

Protein change:

Y211*

Links:

dbSNP: rs2063189611

NCBI 1000 Genomes Browser:

rs2063189611

Molecular consequence:

NM_000284.4:c.721_724dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001173454.2:c.835_838dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001173455.2:c.742_745dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001173456.2:c.628_631dup - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001247273	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Feb 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001247273

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Feb 1, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001247273.20

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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