NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys) AND Maple syrup urine disease type 1A

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 21, 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:: RCV001836133.1

Allele description [Variation Report for NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys)]

NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_000709.4(BCKDHA):c.359A>G (p.Tyr120Cys)

HGVS:

NC_000019.10:g.41410993A>G
NG_013004.1:g.18205A>G
NM_000709.4:c.359A>GMANE SELECT
NM_001164783.2:c.359A>G
NP_000700.1:p.Tyr120Cys
NP_001158255.1:p.Tyr120Cys
NC_000019.9:g.41916898A>G
NM_000709.3:c.359A>G

Protein change:

Y120C

Links:

dbSNP: rs764284154

NCBI 1000 Genomes Browser:

rs764284154

Molecular consequence:

NM_000709.4:c.359A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001164783.2:c.359A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Maple syrup urine disease type 1A (MSUD1A)
Synonyms:: MSUD type 1A
Identifiers:: MONDO: MONDO:0023691; MedGen: C1855369; OMIM: 248600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002088143	Natera, Inc.	no assertion criteria provided	Uncertain significance (Sep 21, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002088143

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Sep 21, 2021)

germline

clinical testing

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

Details of each submission

From Natera, Inc., SCV002088143.1

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

Last Updated: Sep 29, 2024

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