rs8190315
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001196.4(BID):āc.28A>Gā(p.Ser10Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0226 in 1,613,790 control chromosomes in the GnomAD database, including 687 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001196.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BID | NM_001196.4 | c.28A>G | p.Ser10Gly | missense_variant | 3/6 | ENST00000622694.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BID | ENST00000622694.5 | c.28A>G | p.Ser10Gly | missense_variant | 3/6 | 1 | NM_001196.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0361 AC: 5491AN: 152140Hom.: 156 Cov.: 32
GnomAD3 exomes AF: 0.0238 AC: 5968AN: 251168Hom.: 122 AF XY: 0.0224 AC XY: 3048AN XY: 135774
GnomAD4 exome AF: 0.0212 AC: 30978AN: 1461532Hom.: 531 Cov.: 32 AF XY: 0.0208 AC XY: 15130AN XY: 727096
GnomAD4 genome ? AF: 0.0361 AC: 5499AN: 152258Hom.: 156 Cov.: 32 AF XY: 0.0350 AC XY: 2603AN XY: 74448
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at