17-4487853-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_182538.5(SPNS3):c.1498G>A(p.Gly500Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_182538.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
SPNS3 | ENST00000355530.7 | c.1498G>A | p.Gly500Ser | missense_variant | Exon 12 of 12 | 2 | NM_182538.5 | ENSP00000347721.2 | ||
SPNS3 | ENST00000575194.5 | n.*752G>A | non_coding_transcript_exon_variant | Exon 11 of 11 | 1 | ENSP00000460781.1 | ||||
SPNS3 | ENST00000575194.5 | n.*752G>A | 3_prime_UTR_variant | Exon 11 of 11 | 1 | ENSP00000460781.1 | ||||
SPNS3 | ENST00000575796.1 | n.522G>A | non_coding_transcript_exon_variant | Exon 4 of 4 | 5 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD4 exome Cov.: 34
GnomAD4 genome Cov.: 34
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1498G>A (p.G500S) alteration is located in exon 12 (coding exon 12) of the SPNS3 gene. This alteration results from a G to A substitution at nucleotide position 1498, causing the glycine (G) at amino acid position 500 to be replaced by a serine (S). 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.