10-97452265-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_198046.3(ZDHHC16):c.419C>T(p.Pro140Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000427 in 1,614,142 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_198046.3 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: 0.0000263 AC: 4AN: 152190Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000835 AC: 21AN: 251388Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135876
GnomAD4 exome AF: 0.0000445 AC: 65AN: 1461834Hom.: 0 Cov.: 33 AF XY: 0.0000578 AC XY: 42AN XY: 727220
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152308Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74462
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.419C>T (p.P140L) alteration is located in exon 4 (coding exon 2) of the ZDHHC16 gene. This alteration results from a C to T substitution at nucleotide position 419, causing the proline (P) at amino acid position 140 to be replaced by a leucine (L). 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