rs5959087
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003022.3(SH3BGRL):c.45+33715G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.186 in 110,880 control chromosomes in the GnomAD database, including 1,688 homozygotes. There are 6,300 hemizygotes 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_003022.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SH3BGRL | NM_003022.3 | c.45+33715G>A | intron_variant | ENST00000373212.6 | NP_003013.1 | |||
SH3BGRL | XM_011531014.2 | c.-7-1158G>A | intron_variant | XP_011529316.1 | ||||
SH3BGRL | XM_047442354.1 | c.-7-1158G>A | intron_variant | XP_047298310.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SH3BGRL | ENST00000373212.6 | c.45+33715G>A | intron_variant | 1 | NM_003022.3 | ENSP00000362308.5 | ||||
SH3BGRL | ENST00000481106.5 | n.258+33384G>A | intron_variant | 1 | ||||||
SH3BGRL | ENST00000463546.5 | n.91+33240G>A | intron_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.186 AC: 20573AN: 110825Hom.: 1690 Cov.: 22 AF XY: 0.190 AC XY: 6279AN XY: 33057
GnomAD4 genome AF: 0.186 AC: 20589AN: 110880Hom.: 1688 Cov.: 22 AF XY: 0.190 AC XY: 6300AN XY: 33122
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at