12-24881318-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005504.7(BCAT1):c.373G>C(p.Val125Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,459,130 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005504.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BCAT1 | NM_005504.7 | c.373G>C | p.Val125Leu | missense_variant | Exon 4 of 11 | ENST00000261192.12 | NP_005495.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000402 AC: 1AN: 248964Hom.: 0 AF XY: 0.00000740 AC XY: 1AN XY: 135054
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1459130Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726068
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.409G>C (p.V137L) alteration is located in exon 4 (coding exon 4) of the BCAT1 gene. This alteration results from a G to C substitution at nucleotide position 409, causing the valine (V) at amino acid position 137 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at