9-128721775-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_032799.5(ZDHHC12):c.358G>A(p.Val120Ile) variant causes a missense change. The variant allele was found at a frequency of 0.000039 in 1,613,502 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_032799.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152192Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000600 AC: 15AN: 249978Hom.: 0 AF XY: 0.0000813 AC XY: 11AN XY: 135308
GnomAD4 exome AF: 0.0000356 AC: 52AN: 1461192Hom.: 0 Cov.: 36 AF XY: 0.0000385 AC XY: 28AN XY: 726870
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152310Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.358G>A (p.V120I) alteration is located in exon 4 (coding exon 4) of the ZDHHC12 gene. This alteration results from a G to A substitution at nucleotide position 358, causing the valine (V) at amino acid position 120 to be replaced by an isoleucine (I). 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