15-83588724-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003027.5(SH3GL3):c.791C>G(p.Ser264Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,394 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003027.5 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 | UniProt |
---|---|---|---|---|---|---|---|
SH3GL3 | NM_003027.5 | c.791C>G | p.Ser264Cys | missense_variant | 8/9 | ENST00000427482.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SH3GL3 | ENST00000427482.7 | c.791C>G | p.Ser264Cys | missense_variant | 8/9 | 1 | NM_003027.5 | P1 | |
SH3GL3 | ENST00000563901.5 | c.*586C>G | 3_prime_UTR_variant, NMD_transcript_variant | 8/9 | 1 | ||||
SH3GL3 | ENST00000324537.5 | c.815C>G | p.Ser272Cys | missense_variant | 11/12 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460394Hom.: 0 Cov.: 28 AF XY: 0.00 AC XY: 0AN XY: 726618
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 12, 2021 | The c.791C>G (p.S264C) alteration is located in exon 8 (coding exon 8) of the SH3GL3 gene. This alteration results from a C to G substitution at nucleotide position 791, causing the serine (S) at amino acid position 264 to be replaced by a cysteine (C). 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
Publications
No publications associated with this variant yet.