chr19-12015335-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001308348.2(ZNF433):c.1523G>A(p.Cys508Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000725 in 1,613,866 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001308348.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF433 | ENST00000550507.7 | c.1523G>A | p.Cys508Tyr | missense_variant | Exon 4 of 4 | 2 | NM_001308348.2 | ENSP00000448099.2 | ||
ENSG00000286098 | ENST00000652448.1 | c.-94+13513C>T | intron_variant | Intron 2 of 4 | ENSP00000498410.1 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 151982Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250502Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135778
GnomAD4 exome AF: 0.0000739 AC: 108AN: 1461884Hom.: 0 Cov.: 32 AF XY: 0.0000674 AC XY: 49AN XY: 727242
GnomAD4 genome AF: 0.0000592 AC: 9AN: 151982Hom.: 0 Cov.: 33 AF XY: 0.0000539 AC XY: 4AN XY: 74214
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1532G>A (p.C511Y) alteration is located in exon 4 (coding exon 4) of the ZNF433 gene. This alteration results from a G to A substitution at nucleotide position 1532, causing the cysteine (C) at amino acid position 511 to be replaced by a tyrosine (Y). 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