chr22-46231883-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_005036.6(PPARA):c.803C>T(p.Ala268Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00527 in 1,614,122 control chromosomes in the GnomAD database, including 32 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 (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_005036.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PPARA | NM_005036.6 | c.803C>T | p.Ala268Val | missense_variant | 8/9 | ENST00000407236.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PPARA | ENST00000407236.6 | c.803C>T | p.Ala268Val | missense_variant | 8/9 | 1 | NM_005036.6 | P1 | |
PPARA | ENST00000402126.1 | c.803C>T | p.Ala268Val | missense_variant | 6/7 | 1 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00369 AC: 561AN: 152202Hom.: 1 Cov.: 31
GnomAD3 exomes AF: 0.00381 AC: 957AN: 251338Hom.: 6 AF XY: 0.00365 AC XY: 496AN XY: 135868
GnomAD4 exome AF: 0.00543 AC: 7939AN: 1461802Hom.: 31 Cov.: 32 AF XY: 0.00523 AC XY: 3806AN XY: 727194
GnomAD4 genome ? AF: 0.00368 AC: 561AN: 152320Hom.: 1 Cov.: 31 AF XY: 0.00358 AC XY: 267AN XY: 74486
ClinVar
Submissions by phenotype
PPARA-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Aug 01, 2019 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at