22-37641473-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_018957.6(SH3BP1):c.202C>T(p.Arg68Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000136 in 1,549,692 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_018957.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SH3BP1 | NM_018957.6 | c.202C>T | p.Arg68Trp | missense_variant | Exon 3 of 18 | ENST00000649765.2 | NP_061830.3 | |
SH3BP1 | NM_001350055.2 | c.202C>T | p.Arg68Trp | missense_variant | Exon 3 of 18 | NP_001336984.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SH3BP1 | ENST00000649765.2 | c.202C>T | p.Arg68Trp | missense_variant | Exon 3 of 18 | NM_018957.6 | ENSP00000497104.1 | |||
ENSG00000285304 | ENST00000451997.6 | c.10C>T | p.Arg4Trp | missense_variant | Exon 2 of 17 | 2 | ENSP00000401076.2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000143 AC: 20AN: 1397490Hom.: 0 Cov.: 32 AF XY: 0.0000131 AC XY: 9AN XY: 689266
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74358
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.202C>T (p.R68W) alteration is located in exon 3 (coding exon 3) of the SH3BP1 gene. This alteration results from a C to T substitution at nucleotide position 202, causing the arginine (R) at amino acid position 68 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at