chr8-17184809-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_016353.5(ZDHHC2):c.151G>C(p.Glu51Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000207 in 1,549,068 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. E51K) has been classified as Uncertain significance.
Frequency
Consequence
NM_016353.5 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 |
---|---|---|---|---|---|---|---|
ZDHHC2 | NM_016353.5 | c.151G>C | p.Glu51Gln | missense_variant | 2/13 | ENST00000262096.13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZDHHC2 | ENST00000262096.13 | c.151G>C | p.Glu51Gln | missense_variant | 2/13 | 1 | NM_016353.5 | P1 | |
ZDHHC2 | ENST00000522184.1 | c.16G>C | p.Glu6Gln | missense_variant | 2/7 | 3 | |||
ZDHHC2 | ENST00000523132.1 | c.16G>C | p.Glu6Gln | missense_variant | 2/2 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000592 AC: 9AN: 152050Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000253 AC: 4AN: 158250Hom.: 0 AF XY: 0.0000120 AC XY: 1AN XY: 83458
GnomAD4 exome AF: 0.0000165 AC: 23AN: 1396902Hom.: 0 Cov.: 29 AF XY: 0.0000131 AC XY: 9AN XY: 689106
GnomAD4 genome ? AF: 0.0000591 AC: 9AN: 152166Hom.: 0 Cov.: 33 AF XY: 0.0000538 AC XY: 4AN XY: 74400
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Apr 07, 2022 | The c.151G>C (p.E51Q) alteration is located in exon 2 (coding exon 2) of the ZDHHC2 gene. This alteration results from a G to C substitution at nucleotide position 151, causing the glutamic acid (E) at amino acid position 51 to be replaced by a glutamine (Q). 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