rs17091297
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001256447.2(BCAP31):c.341+132C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000897 in 111,480 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples 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_001256447.2 intron
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 |
---|---|---|---|---|---|---|---|
BCAP31 | NM_001256447.2 | c.341+132C>T | intron_variant | ENST00000345046.12 | |||
BCAP31 | NM_001139441.1 | c.341+132C>T | intron_variant | ||||
BCAP31 | NM_001139457.2 | c.542+132C>T | intron_variant | ||||
BCAP31 | NM_005745.8 | c.341+132C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BCAP31 | ENST00000345046.12 | c.341+132C>T | intron_variant | 1 | NM_001256447.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000897 AC: 1AN: 111480Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33672
GnomAD4 exome Cov.: 14
GnomAD4 genome ? AF: 0.00000897 AC: 1AN: 111480Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33672
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at