chr9-137478118-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001098537.3(PNPLA7):āc.2798C>Gā(p.Pro933Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000171 in 1,347,624 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001098537.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PNPLA7 | NM_001098537.3 | c.2798C>G | p.Pro933Arg | missense_variant | 25/35 | ENST00000406427.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PNPLA7 | ENST00000406427.6 | c.2798C>G | p.Pro933Arg | missense_variant | 25/35 | 1 | NM_001098537.3 | P2 | |
PNPLA7 | ENST00000277531.8 | c.2723C>G | p.Pro908Arg | missense_variant | 24/34 | 2 | A2 | ||
PNPLA7 | ENST00000469998.1 | n.1537C>G | non_coding_transcript_exon_variant | 2/10 | 2 | ||||
PNPLA7 | ENST00000492278.5 | n.1314C>G | non_coding_transcript_exon_variant | 1/5 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152154Hom.: 0 Cov.: 33
GnomAD4 exome AF: 0.0000167 AC: 20AN: 1195352Hom.: 0 Cov.: 30 AF XY: 0.0000295 AC XY: 17AN XY: 576494
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152272Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at