6-35425879-A-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_006238.5(PPARD):c.1126A>T(p.Thr376Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000274 in 1,613,960 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 Uncertain significance (★).
Frequency
Consequence
NM_006238.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPARD | NM_006238.5 | c.1126A>T | p.Thr376Ser | 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.1126A>T | p.Thr376Ser | missense_variant | Exon 8 of 8 | 2 | NM_006238.5 | ENSP00000353916.3 | ||
PPARD | ENST00000311565.4 | c.1126A>T | p.Thr376Ser | missense_variant | Exon 9 of 9 | 5 | ENSP00000310928.4 | |||
PPARD | ENST00000448077.6 | c.1009A>T | p.Thr337Ser | missense_variant | Exon 7 of 7 | 2 | ENSP00000414372.2 | |||
PPARD | ENST00000418635.6 | c.832A>T | p.Thr278Ser | missense_variant | Exon 6 of 6 | 2 | ENSP00000413314.2 |
Frequencies
GnomAD3 genomes AF: 0.000184 AC: 28AN: 152096Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000135 AC: 34AN: 251154Hom.: 0 AF XY: 0.000125 AC XY: 17AN XY: 135782
GnomAD4 exome AF: 0.000284 AC: 415AN: 1461864Hom.: 0 Cov.: 31 AF XY: 0.000289 AC XY: 210AN XY: 727240
GnomAD4 genome AF: 0.000184 AC: 28AN: 152096Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74310
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1126A>T (p.T376S) 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 1126, causing the threonine (T) at amino acid position 376 to be replaced by a serine (S). 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