22-17739395-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PM4
The ENST00000342111.9(BID):c.412T>G(p.Ter138Glyext*?) variant causes a stop lost change. The variant allele was found at a frequency of 0.00000746 in 1,608,512 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000342111.9 stop_lost
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000283 AC: 7AN: 246916Hom.: 0 AF XY: 0.00000746 AC XY: 1AN XY: 134014
GnomAD4 exome AF: 0.00000755 AC: 11AN: 1456296Hom.: 0 Cov.: 32 AF XY: 0.00000414 AC XY: 3AN XY: 724340
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74370
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.455T>G (p.V152G) alteration is located in exon 4 (coding exon 4) of the BID gene. This alteration results from a T to G substitution at nucleotide position 455, causing the valine (V) at amino acid position 152 to be replaced by a glycine (G). 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