rs11557466
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_199321.3(ZPBP2):c.19C>G(p.Leu7Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_199321.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ZPBP2 | NM_199321.3 | c.19C>G | p.Leu7Val | missense_variant | 1/8 | ENST00000348931.9 | |
ZPBP2 | NM_198844.3 | c.19C>G | p.Leu7Val | missense_variant | 1/7 | ||
ZPBP2 | XM_047435318.1 | c.19C>G | p.Leu7Val | missense_variant | 1/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ZPBP2 | ENST00000348931.9 | c.19C>G | p.Leu7Val | missense_variant | 1/8 | 1 | NM_199321.3 | P1 | |
ZPBP2 | ENST00000377940.3 | c.19C>G | p.Leu7Val | missense_variant | 1/7 | 1 | |||
ZPBP2 | ENST00000584588.5 | c.19C>G | p.Leu7Val | missense_variant | 1/7 | 5 | |||
ZPBP2 | ENST00000583811.5 | c.19C>G | p.Leu7Val | missense_variant | 1/5 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 31
GnomAD4 exome Cov.: 62
GnomAD4 genome ? Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at