chr8-17156790-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_016353.5(ZDHHC2):c.67G>C(p.Val23Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000073 in 1,370,570 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 (★). Another nucleotide change resulting in same amino acid change has been previously reported as Uncertain significancein ClinVar.
Frequency
Consequence
NM_016353.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZDHHC2 | NM_016353.5 | c.67G>C | p.Val23Leu | missense_variant | 1/13 | ENST00000262096.13 | |
ZDHHC2 | XM_011544544.4 | c.80G>C | p.Gly27Ala | missense_variant | 1/15 | ||
ZDHHC2 | XM_011544545.4 | c.80G>C | p.Gly27Ala | missense_variant | 1/14 | ||
ZDHHC2 | XM_011544549.4 | c.80G>C | p.Gly27Ala | missense_variant | 1/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZDHHC2 | ENST00000262096.13 | c.67G>C | p.Val23Leu | missense_variant | 1/13 | 1 | NM_016353.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 7.30e-7 AC: 1AN: 1370570Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 675916
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 17, 2022 | The c.67G>C (p.V23L) alteration is located in exon 1 (coding exon 1) of the ZDHHC2 gene. This alteration results from a G to C substitution at nucleotide position 67, causing the valine (V) at amino acid position 23 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
Publications
No publications associated with this variant yet.