rs121434416
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 4P and 1B. PM2PP2PP5BP4
The NM_001166114.2(PNPLA6):c.2783G>A(p.Arg928His) variant causes a missense change. The variant allele was found at a frequency of 0.000000694 in 1,441,062 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 Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R928C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001166114.2 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 |
---|---|---|---|---|---|---|---|
PNPLA6 | NM_001166114.2 | c.2783G>A | p.Arg928His | missense_variant | 22/32 | ENST00000600737.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PNPLA6 | ENST00000600737.6 | c.2783G>A | p.Arg928His | missense_variant | 22/32 | 1 | NM_001166114.2 | P3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD4 exome AF: 6.94e-7 AC: 1AN: 1441062Hom.: 0 Cov.: 36 AF XY: 0.00000139 AC XY: 1AN XY: 716984
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
Hereditary spastic paraplegia 39 Pathogenic:1
Pathogenic, no assertion criteria provided | literature only | OMIM | Mar 01, 2008 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at