10-132222875-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_173575.4(STK32C):c.1105G>A(p.Gly369Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000014 in 1,426,874 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173575.4 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 |
---|---|---|---|---|---|---|---|---|
STK32C | NM_173575.4 | c.1105G>A | p.Gly369Ser | missense_variant | Exon 9 of 12 | ENST00000298630.8 | NP_775846.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
STK32C | ENST00000298630.8 | c.1105G>A | p.Gly369Ser | missense_variant | Exon 9 of 12 | 1 | NM_173575.4 | ENSP00000298630.3 | ||
STK32C | ENST00000368622.5 | c.754G>A | p.Gly252Ser | missense_variant | Exon 9 of 12 | 1 | ENSP00000357611.1 | |||
STK32C | ENST00000462160.5 | n.922G>A | non_coding_transcript_exon_variant | Exon 9 of 13 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000140 AC: 2AN: 1426874Hom.: 0 Cov.: 35 AF XY: 0.00000141 AC XY: 1AN XY: 707492
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1105G>A (p.G369S) alteration is located in exon 9 (coding exon 9) of the STK32C gene. This alteration results from a G to A substitution at nucleotide position 1105, causing the glycine (G) at amino acid position 369 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