rs3213710
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The NM_004334.3(BST1):c.612-9G>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 0.511 in 1,557,570 control chromosomes in the GnomAD database, including 207,443 homozygotes. 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_004334.3 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
BST1 | NM_004334.3 | c.612-9G>A | splice_polypyrimidine_tract_variant, intron_variant | ENST00000265016.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
BST1 | ENST00000265016.9 | c.612-9G>A | splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_004334.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.447 AC: 67944AN: 151840Hom.: 16443 Cov.: 32
GnomAD3 exomes AF: 0.518 AC: 118741AN: 229426Hom.: 31883 AF XY: 0.523 AC XY: 65017AN XY: 124324
GnomAD4 exome AF: 0.518 AC: 727548AN: 1405612Hom.: 190992 Cov.: 24 AF XY: 0.520 AC XY: 363982AN XY: 699828
GnomAD4 genome AF: 0.447 AC: 67969AN: 151958Hom.: 16451 Cov.: 32 AF XY: 0.452 AC XY: 33564AN XY: 74254
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at