chr6-35420220-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_006238.5(PPARD):c.224G>A(p.Arg75Gln) variant causes a missense change. The variant allele was found at a frequency of 0.00000808 in 1,609,874 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_006238.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPARD | NM_006238.5 | c.224G>A | p.Arg75Gln | missense_variant | Exon 4 of 8 | ENST00000360694.8 | NP_006229.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152224Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000407 AC: 1AN: 245942Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 132860
GnomAD4 exome AF: 0.00000755 AC: 11AN: 1457650Hom.: 0 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 724974
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152224Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74360
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.224G>A (p.R75Q) alteration is located in exon 5 (coding exon 2) of the PPARD gene. This alteration results from a G to A substitution at nucleotide position 224, causing the arginine (R) at amino acid position 75 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at