rs201371505
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001122681.2(SH3BP2):āc.543C>Gā(p.Asp181Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000313 in 1,599,264 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
NM_001122681.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SH3BP2 | NM_001122681.2 | c.543C>G | p.Asp181Glu | missense_variant | 7/13 | ENST00000503393.8 | NP_001116153.1 | |
SH3BP2 | NM_001145856.2 | c.714C>G | p.Asp238Glu | missense_variant | 7/13 | NP_001139328.1 | ||
SH3BP2 | NM_001145855.2 | c.627C>G | p.Asp209Glu | missense_variant | 7/13 | NP_001139327.1 | ||
SH3BP2 | NM_003023.4 | c.543C>G | p.Asp181Glu | missense_variant | 7/13 | NP_003014.3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SH3BP2 | ENST00000503393.8 | c.543C>G | p.Asp181Glu | missense_variant | 7/13 | 1 | NM_001122681.2 | ENSP00000422168.3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000447 AC: 1AN: 223704Hom.: 0 AF XY: 0.00000830 AC XY: 1AN XY: 120464
GnomAD4 exome AF: 0.00000276 AC: 4AN: 1447042Hom.: 0 Cov.: 37 AF XY: 0.00000557 AC XY: 4AN XY: 718168
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 34 AF XY: 0.0000134 AC XY: 1AN XY: 74366
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at