6-157542707-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_024630.3(ZDHHC14):c.368C>T(p.Ala123Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,730 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_024630.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZDHHC14 | ENST00000359775.10 | c.368C>T | p.Ala123Val | missense_variant | Exon 2 of 9 | 1 | NM_024630.3 | ENSP00000352821.5 | ||
ZDHHC14 | ENST00000414563.6 | c.368C>T | p.Ala123Val | missense_variant | Exon 2 of 9 | 1 | ENSP00000410713.2 | |||
ZDHHC14 | ENST00000518214.5 | n.122C>T | non_coding_transcript_exon_variant | Exon 1 of 8 | 3 | ENSP00000428211.1 | ||||
ZDHHC14 | ENST00000523468.5 | n.119C>T | non_coding_transcript_exon_variant | Exon 1 of 3 | 4 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461730Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727180
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.368C>T (p.A123V) alteration is located in exon 2 (coding exon 2) of the ZDHHC14 gene. This alteration results from a C to T substitution at nucleotide position 368, causing the alanine (A) at amino acid position 123 to be replaced by a valine (V). 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.