8-17589758-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001372073.1(PDGFRL):c.346C>T(p.Arg116Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000553 in 1,592,346 control chromosomes in the GnomAD database, including 1 homozygotes. 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. R116H) 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 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PDGFRL | NM_001372073.1 | c.346C>T | p.Arg116Cys | missense_variant | 2/6 | ENST00000251630.11 | |
PDGFRL | NM_006207.2 | c.346C>T | p.Arg116Cys | missense_variant | 3/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDGFRL | ENST00000251630.11 | c.346C>T | p.Arg116Cys | missense_variant | 2/6 | 5 | NM_001372073.1 | P1 | |
PDGFRL | ENST00000541323.1 | c.346C>T | p.Arg116Cys | missense_variant | 3/7 | 2 | P1 | ||
PDGFRL | ENST00000673645.1 | c.346C>T | p.Arg116Cys | missense_variant | 3/4 |
Frequencies
GnomAD3 genomes ? AF: 0.000118 AC: 18AN: 152014Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000101 AC: 24AN: 237358Hom.: 0 AF XY: 0.000116 AC XY: 15AN XY: 128992
GnomAD4 exome AF: 0.0000486 AC: 70AN: 1440332Hom.: 1 Cov.: 29 AF XY: 0.0000489 AC XY: 35AN XY: 715282
GnomAD4 genome ? AF: 0.000118 AC: 18AN: 152014Hom.: 0 Cov.: 31 AF XY: 0.000162 AC XY: 12AN XY: 74248
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 16, 2022 | The c.346C>T (p.R116C) alteration is located in exon 3 (coding exon 2) of the PDGFRL gene. This alteration results from a C to T substitution at nucleotide position 346, causing the arginine (R) at amino acid position 116 to be replaced by a cysteine (C). 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