chr8-11550149-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001715.3(BLK):c.369-10C>A variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,460,970 control chromosomes in the GnomAD database, with no homozygous occurrence. 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_001715.3 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BLK | NM_001715.3 | c.369-10C>A | splice_polypyrimidine_tract_variant, intron_variant | ENST00000259089.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BLK | ENST00000259089.9 | c.369-10C>A | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_001715.3 | P1 | |||
BLK | ENST00000526778.1 | n.156C>A | non_coding_transcript_exon_variant | 1/4 | 3 | ||||
BLK | ENST00000645242.1 | n.520-10C>A | splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | ||||||
BLK | ENST00000696154.2 | n.520-10C>A | splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460970Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726850
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at