5-100902904-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005668.6(ST8SIA4):c.52A>G(p.Ile18Val) variant causes a missense change. The variant allele was found at a frequency of 0.0000394 in 152,204 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_005668.6 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ST8SIA4 | NM_005668.6 | c.52A>G | p.Ile18Val | missense_variant | Exon 1 of 5 | ENST00000231461.10 | NP_005659.1 | |
ST8SIA4 | NM_175052.3 | c.52A>G | p.Ile18Val | missense_variant | Exon 1 of 3 | NP_778222.1 | ||
ST8SIA4 | XM_005272078.4 | c.52A>G | p.Ile18Val | missense_variant | Exon 1 of 5 | XP_005272135.1 | ||
ST8SIA4 | XM_011543630.3 | c.52A>G | p.Ile18Val | missense_variant | Exon 1 of 4 | XP_011541932.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ST8SIA4 | ENST00000231461.10 | c.52A>G | p.Ile18Val | missense_variant | Exon 1 of 5 | 1 | NM_005668.6 | ENSP00000231461.4 | ||
ST8SIA4 | ENST00000451528.2 | c.52A>G | p.Ile18Val | missense_variant | Exon 1 of 3 | 1 | ENSP00000428914.1 | |||
ST8SIA4 | ENST00000523381.1 | n.52A>G | non_coding_transcript_exon_variant | Exon 1 of 3 | 3 | ENSP00000428826.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152204Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.52A>G (p.I18V) alteration is located in exon 1 (coding exon 1) of the ST8SIA4 gene. This alteration results from a A to G substitution at nucleotide position 52, causing the isoleucine (I) at amino acid position 18 to be replaced by a valine (V). 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