22-17773637-G-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000317361.11(BID):c.53C>A(p.Ala18Asp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000316 in 1,612,148 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/17 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000317361.11 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BID | NM_001196.4 | c.-59+744C>A | intron_variant | ENST00000622694.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BID | ENST00000622694.5 | c.-59+744C>A | intron_variant | 1 | NM_001196.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000191 AC: 29AN: 152090Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000403 AC: 10AN: 248374Hom.: 0 AF XY: 0.0000297 AC XY: 4AN XY: 134904
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1459940Hom.: 0 Cov.: 31 AF XY: 0.0000138 AC XY: 10AN XY: 726376
GnomAD4 genome ? AF: 0.000191 AC: 29AN: 152208Hom.: 0 Cov.: 32 AF XY: 0.000202 AC XY: 15AN XY: 74424
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 25, 2023 | The c.53C>A (p.A18D) alteration is located in exon 1 (coding exon 1) of the BID gene. This alteration results from a C to A substitution at nucleotide position 53, causing the alanine (A) at amino acid position 18 to be replaced by an aspartic acid (D). 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