11-57673119-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015457.3(ZDHHC5):c.29A>C(p.Lys10Thr) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015457.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ZDHHC5 | NM_015457.3 | c.29A>C | p.Lys10Thr | missense_variant | Exon 2 of 12 | ENST00000287169.8 | NP_056272.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZDHHC5 | ENST00000287169.8 | c.29A>C | p.Lys10Thr | missense_variant | Exon 2 of 12 | 1 | NM_015457.3 | ENSP00000287169.3 | ||
ZDHHC5 | ENST00000527985.5 | c.-56+4932A>C | intron_variant | Intron 1 of 10 | 1 | ENSP00000432202.1 | ||||
ZDHHC5 | ENST00000528177.5 | c.-81+4932A>C | intron_variant | Intron 1 of 4 | 4 | ENSP00000431209.1 | ||||
ZDHHC5 | ENST00000532842.1 | c.-156A>C | upstream_gene_variant | 5 | ENSP00000435593.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.29A>C (p.K10T) alteration is located in exon 2 (coding exon 1) of the ZDHHC5 gene. This alteration results from a A to C substitution at nucleotide position 29, causing the lysine (K) at amino acid position 10 to be replaced by a threonine (T). 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.