11-19155856-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_019028.3(ZDHHC13):āc.934T>Cā(p.Phe312Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,612,952 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 (ā ).
Frequency
Consequence
NM_019028.3 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZDHHC13 | NM_019028.3 | c.934T>C | p.Phe312Leu | missense_variant | 9/17 | ENST00000446113.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZDHHC13 | ENST00000446113.7 | c.934T>C | p.Phe312Leu | missense_variant | 9/17 | 1 | NM_019028.3 | P1 | |
ZDHHC13 | ENST00000399351.7 | c.544T>C | p.Phe182Leu | missense_variant | 8/16 | 1 | |||
ZDHHC13 | ENST00000525490.5 | n.882T>C | non_coding_transcript_exon_variant | 8/15 | 1 | ||||
ZDHHC13 | ENST00000532812.5 | n.767T>C | non_coding_transcript_exon_variant | 6/6 | 3 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152246Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247572Hom.: 0 AF XY: 0.00000744 AC XY: 1AN XY: 134386
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460706Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726652
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152246Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74382
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at