NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del) AND Maple syrup urine disease

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 17, 2021
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:: RCV000692185.11

Allele description [Variation Report for NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)]

NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000709.4(BCKDHA):c.782TCT[2] (p.Phe263del)

HGVS:

NC_000019.10:g.41422299TCT[2]
NG_013004.1:g.29511TCT[2]
NM_000709.4:c.782TCT[2]MANE SELECT
NM_001164783.2:c.782TCT[2]
NP_000700.1:p.Phe263del
NP_001158255.1:p.Phe263del
NC_000019.9:g.41928204TCT[2]
NC_000019.9:g.41928204_41928206del
NM_000709.3:c.788_790delTCT
NM_000709.4:c.788_790delTCTMANE SELECT

Protein change:

F263del

Links:

dbSNP: rs398123505

NCBI 1000 Genomes Browser:

rs398123505

Molecular consequence:

NM_000709.4:c.782TCT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001164783.2:c.782TCT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Maple syrup urine disease (MSUD)
Identifiers:: MONDO: MONDO:0009563; MeSH: D008375; MedGen: C0024776; Orphanet: 511; OMIM: PS248600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000819996	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 17, 2021)	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

SCV000819996

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 17, 2021)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000819996.4

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

Description

This variant, c.788_790del, results in the deletion of 1 amino acid(s) of the BCKDHA protein (p.Phe263del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766791580, ExAC 0.01%). This variant has been observed in individual(s) with maple syrup urine disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 93372). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 29, 2024

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