1-26852783-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032283.3(ZDHHC18):c.967G>A(p.Gly323Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000297 in 1,614,064 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032283.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZDHHC18 | NM_032283.3 | c.967G>A | p.Gly323Ser | missense_variant | 7/8 | ENST00000374142.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZDHHC18 | ENST00000374142.9 | c.967G>A | p.Gly323Ser | missense_variant | 7/8 | 1 | NM_032283.3 | P1 | |
ZDHHC18 | ENST00000374141.6 | c.562G>A | p.Gly188Ser | missense_variant | 7/8 | 2 | |||
ZDHHC18 | ENST00000488397.3 | c.262G>A | p.Gly88Ser | missense_variant | 4/7 | 2 | |||
ZDHHC18 | ENST00000478902.1 | n.134G>A | non_coding_transcript_exon_variant | 2/2 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000723 AC: 11AN: 152148Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251314Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135826
GnomAD4 exome AF: 0.0000239 AC: 35AN: 1461798Hom.: 1 Cov.: 30 AF XY: 0.0000193 AC XY: 14AN XY: 727222
GnomAD4 genome ? AF: 0.0000854 AC: 13AN: 152266Hom.: 0 Cov.: 33 AF XY: 0.0000672 AC XY: 5AN XY: 74444
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 14, 2023 | The c.967G>A (p.G323S) alteration is located in exon 7 (coding exon 7) of the ZDHHC18 gene. This alteration results from a G to A substitution at nucleotide position 967, causing the glycine (G) at amino acid position 323 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