chr22-43928847-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_025225.3(PNPLA3):c.444C>A(p.Ile148=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000066 in 151,590 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_025225.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PNPLA3 | NM_025225.3 | c.444C>A | p.Ile148= | synonymous_variant | 3/9 | ENST00000216180.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PNPLA3 | ENST00000216180.8 | c.444C>A | p.Ile148= | synonymous_variant | 3/9 | 1 | NM_025225.3 | P1 | |
PNPLA3 | ENST00000423180.2 | c.432C>A | p.Ile144= | synonymous_variant | 3/9 | 2 | |||
PNPLA3 | ENST00000478713.1 | n.478C>A | non_coding_transcript_exon_variant | 3/4 | 2 | ||||
PNPLA3 | ENST00000406117.6 | c.*76C>A | 3_prime_UTR_variant, NMD_transcript_variant | 3/10 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.00000660 AC: 1AN: 151590Hom.: 0 Cov.: 30
GnomAD4 exome Cov.: 35
GnomAD4 genome ? AF: 0.00000660 AC: 1AN: 151590Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 73998
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at