5-145938217-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_152550.4(SH3RF2):c.289C>A(p.Gln97Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000124 in 1,612,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152550.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SH3RF2 | ENST00000359120.9 | c.289C>A | p.Gln97Lys | missense_variant | Exon 2 of 10 | 1 | NM_152550.4 | ENSP00000352028.4 | ||
SH3RF2 | ENST00000511217.1 | c.289C>A | p.Gln97Lys | missense_variant | Exon 1 of 10 | 1 | ENSP00000424497.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000803 AC: 2AN: 249038Hom.: 0 AF XY: 0.00000742 AC XY: 1AN XY: 134766
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460302Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726472
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.289C>A (p.Q97K) alteration is located in exon 2 (coding exon 1) of the SH3RF2 gene. This alteration results from a C to A substitution at nucleotide position 289, causing the glutamine (Q) at amino acid position 97 to be replaced by a lysine (K). 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