20-2483571-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_024325.6(ZNF343):āc.1390C>Gā(p.Pro464Ala) variant causes a missense change. The variant allele was found at a frequency of 0.000018 in 1,612,392 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 (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P464T) has been classified 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 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF343 | NM_024325.6 | c.1390C>G | p.Pro464Ala | missense_variant | 6/6 | ENST00000278772.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF343 | ENST00000278772.9 | c.1390C>G | p.Pro464Ala | missense_variant | 6/6 | 2 | NM_024325.6 | P1 | |
ZNF343 | ENST00000612935.4 | c.1513C>G | p.Pro505Ala | missense_variant | 8/8 | 5 | |||
ZNF343 | ENST00000617391.4 | c.1120C>G | p.Pro374Ala | missense_variant | 4/4 | 4 | |||
ZNF343 | ENST00000465019.1 | n.1418C>G | non_coding_transcript_exon_variant | 2/2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000133 AC: 2AN: 150752Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000318 AC: 8AN: 251460Hom.: 0 AF XY: 0.0000368 AC XY: 5AN XY: 135896
GnomAD4 exome AF: 0.0000185 AC: 27AN: 1461520Hom.: 0 Cov.: 32 AF XY: 0.0000151 AC XY: 11AN XY: 727076
GnomAD4 genome AF: 0.0000133 AC: 2AN: 150872Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 73634
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at