rs6527958
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001367774.2(BCLAF3):c.-34-8088G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.353 in 110,321 control chromosomes in the GnomAD database, including 8,192 homozygotes. There are 10,786 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001367774.2 intron
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 |
---|---|---|---|---|---|---|---|
BCLAF3 | NM_001367774.2 | c.-34-8088G>A | intron_variant | ENST00000379682.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCLAF3 | ENST00000379682.9 | c.-34-8088G>A | intron_variant | 5 | NM_001367774.2 | P1 | |||
BCLAF3 | ENST00000379687.8 | c.-34-8088G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.352 AC: 38851AN: 110267Hom.: 8187 Cov.: 22 AF XY: 0.330 AC XY: 10737AN XY: 32543
GnomAD4 genome ? AF: 0.353 AC: 38914AN: 110321Hom.: 8192 Cov.: 22 AF XY: 0.331 AC XY: 10786AN XY: 32607
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at