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NM_001190.4(BCAT2):c.509G>A (p.Arg170Gln) AND Hypervalinemia and hyperleucine-isoleucinemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 20, 2020
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:
RCV001078195.1

Allele description [Variation Report for NM_001190.4(BCAT2):c.509G>A (p.Arg170Gln)]

NM_001190.4(BCAT2):c.509G>A (p.Arg170Gln)

Gene:
BCAT2:branched chain amino acid transaminase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.33
Genomic location:
Preferred name:
NM_001190.4(BCAT2):c.509G>A (p.Arg170Gln)
HGVS:
  • NC_000019.10:g.48800003C>T
  • NG_013003.1:g.16061G>A
  • NM_001164773.2:c.233G>A
  • NM_001190.4:c.509G>AMANE SELECT
  • NM_001284325.2:c.389G>A
  • NP_001158245.1:p.Arg78Gln
  • NP_001181.2:p.Arg170Gln
  • NP_001271254.1:p.Arg130Gln
  • NC_000019.9:g.49303260C>T
Protein change:
R130Q; ARG170GLN
Links:
OMIM: 113530.0001; dbSNP: rs749866079
NCBI 1000 Genomes Browser:
rs749866079
Molecular consequence:
  • NM_001164773.2:c.233G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190.4:c.509G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001284325.2:c.389G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hypervalinemia and hyperleucine-isoleucinemia (HVLI)
Synonyms:
BRANCHED-CHAIN AMINOTRANSFERASE DEFICIENCY; Hypervalinemia or hyperleucine-isoleucinemia
Identifiers:
MONDO: MONDO:0100058; MedGen: C5394277; OMIM: 618850

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001244280OMIM
no assertion criteria provided
Pathogenic
(Apr 20, 2020) 		germlineliterature only

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

Hamosh, A. Personal Communication. 2020. Baltimore, Md.

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene.

Wang XL, Li CJ, Xing Y, Yang YH, Jia JP.

J Inherit Metab Dis. 2015 Sep;38(5):855-61. doi: 10.1007/s10545-015-9814-z. Epub 2015 Feb 5.

PubMed [citation]
PMID:
25653144

Details of each submission

From OMIM, SCV001244280.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 25-year-old man with hypervalinemia and hyperleucine-isoleucinemia (HVLI; 618850), Wang et al. (2015) reported compound heterozygosity for a c.509G-A transition in the BCAT2 gene resulting in an arg170-to-gln substitution (R170Q), and a c.790G-A transition resulting in a glu264-to-lys substitution (E264K). The R170Q mutation had been inherited from his father and E264K from his mother. Hamosh (2020) noted that the R170Q mutation was present in 1 of 250,096 alleles, and the E264K mutation in heterozygosity in 3 of 250,338 alleles, in the gnomAD database (April 20, 2020).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 24, 2022