rs80031434
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001706.5(BCL6):c.-50+476G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000657 in 152,106 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_001706.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BCL6 | NM_001706.5 | c.-50+476G>T | intron_variant | ENST00000406870.7 | |||
LOC122526776 | NR_173091.1 | n.377-310C>A | intron_variant, non_coding_transcript_variant | ||||
BCL6 | XM_047448655.1 | c.-1081G>T | 5_prime_UTR_variant | 1/10 | |||
BCL6 | XM_011513062.4 | c.-50+476G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCL6 | ENST00000406870.7 | c.-50+476G>T | intron_variant | 1 | NM_001706.5 | P1 | |||
ENST00000648485.2 | n.360-310C>A | intron_variant, non_coding_transcript_variant | |||||||
ENST00000702512.1 | upstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152106Hom.: 0 Cov.: 32
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152106Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74290
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at