20-2483468-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_024325.6(ZNF343):c.1493G>A(p.Cys498Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.00000434 in 1,611,312 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_024325.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ZNF343 | ENST00000278772.9 | c.1493G>A | p.Cys498Tyr | missense_variant | Exon 6 of 6 | 2 | NM_024325.6 | ENSP00000278772.4 | ||
ENSG00000256566 | ENST00000461548.1 | n.304+9231G>A | intron_variant | Intron 5 of 6 | 5 | ENSP00000456213.1 |
Frequencies
GnomAD3 genomes AF: 0.0000399 AC: 6AN: 150484Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251458Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135896
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460828Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726760
GnomAD4 genome AF: 0.0000399 AC: 6AN: 150484Hom.: 0 Cov.: 32 AF XY: 0.0000136 AC XY: 1AN XY: 73424
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1493G>A (p.C498Y) alteration is located in exon 6 (coding exon 4) of the ZNF343 gene. This alteration results from a G to A substitution at nucleotide position 1493, causing the cysteine (C) at amino acid position 498 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