chr19-49673914-G-A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_138639.2(BCL2L12):c.*166G>A variant causes a splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0913 in 686,808 control chromosomes in the GnomAD database, including 3,387 homozygotes. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_138639.2 splice_region
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
BCL2L12 | ENST00000246784.8 | c.*166G>A | splice_region_variant | Exon 7 of 7 | 1 | NM_138639.2 | ENSP00000246784.4 | |||
BCL2L12 | ENST00000246784.8 | c.*166G>A | 3_prime_UTR_variant | Exon 7 of 7 | 1 | NM_138639.2 | ENSP00000246784.4 |
Frequencies
GnomAD3 genomes AF: 0.0720 AC: 10959AN: 152160Hom.: 518 Cov.: 32 show subpopulations
GnomAD4 exome AF: 0.0968 AC: 51725AN: 534530Hom.: 2870 Cov.: 7 AF XY: 0.100 AC XY: 27487AN XY: 274868 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.0720 AC: 10959AN: 152278Hom.: 517 Cov.: 32 AF XY: 0.0726 AC XY: 5406AN XY: 74446 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at