12-24832735-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_005504.7(BCAT1):c.1032G>A(p.Leu344Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000175 in 1,610,282 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_005504.7 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BCAT1 | NM_005504.7 | c.1032G>A | p.Leu344Leu | synonymous_variant | Exon 9 of 11 | ENST00000261192.12 | NP_005495.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000390 AC: 95AN: 243450Hom.: 0 AF XY: 0.000531 AC XY: 70AN XY: 131802
GnomAD4 exome AF: 0.000182 AC: 266AN: 1458034Hom.: 2 Cov.: 31 AF XY: 0.000266 AC XY: 193AN XY: 724858
GnomAD4 genome AF: 0.000105 AC: 16AN: 152248Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74436
ClinVar
Submissions by phenotype
BCAT1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at