chr19-58455321-C-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_207395.3(ZNF324B):āc.377C>Gā(p.Pro126Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,614,110 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ).
Frequency
Consequence
NM_207395.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZNF324B | NM_207395.3 | c.377C>G | p.Pro126Arg | missense_variant | 4/4 | ENST00000336614.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZNF324B | ENST00000336614.9 | c.377C>G | p.Pro126Arg | missense_variant | 4/4 | 1 | NM_207395.3 | P1 | |
ZNF324B | ENST00000545523.5 | c.377C>G | p.Pro126Arg | missense_variant | 5/5 | 1 | P1 | ||
ZNF324B | ENST00000599193.5 | c.377C>G | p.Pro126Arg | missense_variant | 4/4 | 3 | |||
ZNF324B | ENST00000599194.5 | c.377C>G | p.Pro126Arg | missense_variant | 4/4 | 4 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152228Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000278 AC: 7AN: 251466Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135914
GnomAD4 exome AF: 0.0000205 AC: 30AN: 1461882Hom.: 1 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 727240
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152228Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at