11-27214514-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_125768.1(BBOX1-AS1):n.274+2803G>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000658 in 151,918 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
NR_125768.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BBOX1-AS1 | NR_125768.1 | n.274+2803G>T | intron_variant, non_coding_transcript_variant | ||||
BBOX1-AS1 | NR_125766.1 | n.591+2803G>T | intron_variant, non_coding_transcript_variant | ||||
BBOX1-AS1 | NR_125767.1 | n.231+2803G>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BBOX1-AS1 | ENST00000526061.5 | n.241+2803G>T | intron_variant, non_coding_transcript_variant | 4 | |||||
BBOX1-AS1 | ENST00000525302.5 | n.231+2803G>T | intron_variant, non_coding_transcript_variant | 4 | |||||
BBOX1-AS1 | ENST00000530430.1 | n.564+2803G>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151918Hom.: 0 Cov.: 31
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151918Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74196
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at