NM_006238.5:c.1193A>T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_006238.5(PPARD):c.1193A>T(p.Lys398Met) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 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 Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPARD | NM_006238.5 | c.1193A>T | p.Lys398Met | missense_variant | Exon 8 of 8 | ENST00000360694.8 | NP_006229.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PPARD | ENST00000360694.8 | c.1193A>T | p.Lys398Met | missense_variant | Exon 8 of 8 | 2 | NM_006238.5 | ENSP00000353916.3 | ||
PPARD | ENST00000311565.4 | c.1193A>T | p.Lys398Met | missense_variant | Exon 9 of 9 | 5 | ENSP00000310928.4 | |||
PPARD | ENST00000448077.6 | c.1076A>T | p.Lys359Met | missense_variant | Exon 7 of 7 | 2 | ENSP00000414372.2 | |||
PPARD | ENST00000418635.6 | c.899A>T | p.Lys300Met | missense_variant | Exon 6 of 6 | 2 | ENSP00000413314.2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1193A>T (p.K398M) alteration is located in exon 9 (coding exon 6) of the PPARD gene. This alteration results from a A to T substitution at nucleotide position 1193, causing the lysine (K) at amino acid position 398 to be replaced by a methionine (M). 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
Publications
No publications associated with this variant yet.