rs2815752
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000653965.1(ENSG00000286863):n.236+63352G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.625 in 151,932 control chromosomes in the GnomAD database, including 30,302 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
ENST00000653965.1 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105378797 | XR_001737670.2 | n.472+63352G>A | intron_variant | Intron 1 of 7 | ||||
LOC105378797 | XR_001737671.3 | n.472+63352G>A | intron_variant | Intron 1 of 5 | ||||
LOC105378797 | XR_947505.3 | n.472+63352G>A | intron_variant | Intron 1 of 6 | ||||
LOC105378797 | XR_947506.3 | n.472+63352G>A | intron_variant | Intron 1 of 5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000286863 | ENST00000653965.1 | n.236+63352G>A | intron_variant | Intron 1 of 6 | ||||||
ENSG00000286863 | ENST00000665984.1 | n.153+63352G>A | intron_variant | Intron 1 of 6 | ||||||
ENSG00000286863 | ENST00000667836.1 | n.227+63352G>A | intron_variant | Intron 1 of 2 | ||||||
ENSG00000286863 | ENST00000688733.1 | n.56+63352G>A | intron_variant | Intron 1 of 7 |
Frequencies
GnomAD3 genomes AF: 0.625 AC: 94889AN: 151814Hom.: 30286 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.625 AC: 94939AN: 151932Hom.: 30302 Cov.: 31 AF XY: 0.631 AC XY: 46861AN XY: 74240 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at