8-17589759-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_001372073.1(PDGFRL):c.347G>A(p.Arg116His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000503 in 1,589,380 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R116C) has been classified as Uncertain significance.
Frequency
Consequence
NM_001372073.1 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PDGFRL | NM_001372073.1 | c.347G>A | p.Arg116His | missense_variant | 2/6 | ENST00000251630.11 | |
PDGFRL | NM_006207.2 | c.347G>A | p.Arg116His | missense_variant | 3/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDGFRL | ENST00000251630.11 | c.347G>A | p.Arg116His | missense_variant | 2/6 | 5 | NM_001372073.1 | P1 | |
PDGFRL | ENST00000541323.1 | c.347G>A | p.Arg116His | missense_variant | 3/7 | 2 | P1 | ||
PDGFRL | ENST00000673645.1 | c.347G>A | p.Arg116His | missense_variant | 3/4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152110Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000426 AC: 1AN: 235016Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 127770
GnomAD4 exome AF: 0.00000487 AC: 7AN: 1437270Hom.: 0 Cov.: 29 AF XY: 0.00000560 AC XY: 4AN XY: 713668
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152110Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74300
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 09, 2023 | The c.347G>A (p.R116H) alteration is located in exon 3 (coding exon 2) of the PDGFRL gene. This alteration results from a G to A substitution at nucleotide position 347, causing the arginine (R) at amino acid position 116 to be replaced by a histidine (H). 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