rs1801018
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BA1
The NM_000633.3(BCL2):āc.21A>Gā(p.Thr7Thr) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.398 in 1,612,024 control chromosomes in the GnomAD database, including 135,183 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_000633.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
BCL2 | NM_000633.3 | c.21A>G | p.Thr7Thr | synonymous_variant | Exon 2 of 3 | ENST00000333681.5 | NP_000624.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.318 AC: 48421AN: 152080Hom.: 9644 Cov.: 32
GnomAD3 exomes AF: 0.372 AC: 91756AN: 246918Hom.: 18853 AF XY: 0.378 AC XY: 50836AN XY: 134404
GnomAD4 exome AF: 0.406 AC: 593323AN: 1459826Hom.: 125536 Cov.: 65 AF XY: 0.407 AC XY: 295512AN XY: 726246
GnomAD4 genome AF: 0.318 AC: 48426AN: 152198Hom.: 9647 Cov.: 32 AF XY: 0.320 AC XY: 23836AN XY: 74428
ClinVar
Submissions by phenotype
BCL2-related disorder Benign:1
This variant is classified as 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