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NM_000709.4(BCKDHA):c.718del (p.Ala240fs) AND Maple syrup urine disease type 1A

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Feb 1, 2024
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:
RCV001830465.2

Allele description [Variation Report for NM_000709.4(BCKDHA):c.718del (p.Ala240fs)]

NM_000709.4(BCKDHA):c.718del (p.Ala240fs)

Gene:
BCKDHA:branched chain keto acid dehydrogenase E1 subunit alpha [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_000709.4(BCKDHA):c.718del (p.Ala240fs)
HGVS:
  • NC_000019.10:g.41422235del
  • NG_013004.1:g.29447del
  • NM_000709.4:c.718delMANE SELECT
  • NM_001164783.2:c.718del
  • NP_000700.1:p.Ala240fs
  • NP_001158255.1:p.Ala240fs
  • NC_000019.9:g.41928136del
  • NC_000019.9:g.41928140del
  • NM_000709.3:c.718delG
Protein change:
A240fs
Links:
dbSNP: rs1555766993
NCBI 1000 Genomes Browser:
rs1555766993
Molecular consequence:
  • NM_000709.4:c.718del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001164783.2:c.718del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002088154Natera, Inc.
no assertion criteria provided
Pathogenic
(Feb 2, 2021) 		germlineclinical testing

SCV005052041Laboratory of Medical Genetics, National & Kapodistrian University of Athens
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 1, 2024) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedcuration

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Natera, Inc., SCV002088154.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV005052041.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024