chr22-37641383-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_018957.6(SH3BP1):c.112C>T(p.Arg38Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000451 in 1,550,704 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R38Q) has been classified as Uncertain significance.
Frequency
Consequence
NM_018957.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SH3BP1 | NM_018957.6 | c.112C>T | p.Arg38Trp | missense_variant | Exon 3 of 18 | ENST00000649765.2 | NP_061830.3 | |
SH3BP1 | NM_001350055.2 | c.112C>T | p.Arg38Trp | missense_variant | Exon 3 of 18 | NP_001336984.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152200Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000647 AC: 1AN: 154476Hom.: 0 AF XY: 0.0000122 AC XY: 1AN XY: 81668
GnomAD4 exome AF: 0.00000143 AC: 2AN: 1398504Hom.: 0 Cov.: 32 AF XY: 0.00000290 AC XY: 2AN XY: 689804
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152200Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.112C>T (p.R38W) 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 112, causing the arginine (R) at amino acid position 38 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