NM_000709.3(BCKDHA):c.929C>G (p.Thr310Arg) AND not provided

replaced

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 25, 2013
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:: RCV000079264.3

Allele description

NM_000709.3(BCKDHA):c.929C>G (p.Thr310Arg)

Gene:

BCKDHA:branched chain keto acid dehydrogenase E1, alpha polypeptide [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000709.3(BCKDHA):c.929C>G (p.Thr310Arg)

HGVS:

NC_000019.10:g.41422704C>G
NG_013004.1:g.29916C>G
NM_000709.3:c.929C>G
NM_001164783.1:c.926C>G
NP_000700.1:p.Thr310Arg
NP_001158255.1:p.Thr309Arg
NC_000019.9:g.41928609C>G

Protein change:

T265R; THR265ARG

Links:

OMIM: 608348.0007; dbSNP: rs137852875

NCBI 1000 Genomes Browser:

rs137852875

Molecular consequence:

NM_000709.3:c.929C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000111134	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	no assertion criteria provided	Pathogenic (Aug 25, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000111134

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

no assertion criteria provided

Pathogenic
(Aug 25, 2013)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	2	not provided	not provided	261	not provided	clinical testing

Citations

PubMed

Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.

Bean LJ, Tinker SW, da Silva C, Hegde MR.

Hum Mutat. 2013 Sep;34(9):1183-8. doi: 10.1002/humu.22364. Epub 2013 Aug 5.

PubMed [citation]

PMID:: 23757202

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000111134.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing (GTR000501325)	PubMed (1)
2	not provided	0	not provided	not provided	clinical testing	PubMed (1)
3	not provided	0	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	228	not provided	not provided	(GTR000501325)	2	not provided	not provided	not provided
2	germline	unknown	not provided	not provided	not provided		0	not provided	not provided	not provided
3	germline	unknown	33	not provided	not provided		0	not provided	not provided	not provided

Last Updated: Feb 13, 2018

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