22-41909874-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001207020.3(SHISA8):c.1085G>C(p.Ser362Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000157 in 1,530,492 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001207020.3 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 |
---|---|---|---|---|---|---|---|---|
SHISA8 | NM_001207020.3 | c.1085G>C | p.Ser362Thr | missense_variant | Exon 4 of 4 | ENST00000621082.2 | NP_001193949.1 | |
SHISA8 | NM_001353438.2 | c.1370G>C | p.Ser457Thr | missense_variant | Exon 4 of 4 | NP_001340367.1 | ||
SHISA8 | NM_001353439.2 | c.1262G>C | p.Ser421Thr | missense_variant | Exon 4 of 4 | NP_001340368.1 | ||
SHISA8 | XM_006724256.5 | c.1250G>C | p.Ser417Thr | missense_variant | Exon 4 of 4 | XP_006724319.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000985 AC: 15AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000809 AC: 1AN: 123590Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67720
GnomAD4 exome AF: 0.00000653 AC: 9AN: 1378272Hom.: 0 Cov.: 31 AF XY: 0.00000147 AC XY: 1AN XY: 679942
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152220Hom.: 0 Cov.: 33 AF XY: 0.000134 AC XY: 10AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1085G>C (p.S362T) alteration is located in exon 4 (coding exon 4) of the SHISA8 gene. This alteration results from a G to C substitution at nucleotide position 1085, causing the serine (S) at amino acid position 362 to be replaced by a threonine (T). 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