8-17634095-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001372073.1(PDGFRL):c.821C>A(p.Thr274Lys) variant causes a missense change. The variant allele was found at a frequency of 0.00000342 in 1,461,708 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. T274I) 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PDGFRL | NM_001372073.1 | c.821C>A | p.Thr274Lys | missense_variant | 5/6 | ENST00000251630.11 | |
PDGFRL | NM_006207.2 | c.821C>A | p.Thr274Lys | missense_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDGFRL | ENST00000251630.11 | c.821C>A | p.Thr274Lys | missense_variant | 5/6 | 5 | NM_001372073.1 | P1 | |
PDGFRL | ENST00000541323.1 | c.821C>A | p.Thr274Lys | missense_variant | 6/7 | 2 | P1 | ||
PDGFRL | ENST00000523248.1 | n.25C>A | non_coding_transcript_exon_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.0000119 AC: 3AN: 251478Hom.: 0 AF XY: 0.00000736 AC XY: 1AN XY: 135910
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461708Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727180
GnomAD4 genome ? Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 06, 2023 | The c.821C>A (p.T274K) alteration is located in exon 6 (coding exon 5) of the PDGFRL gene. This alteration results from a C to A substitution at nucleotide position 821, causing the threonine (T) at amino acid position 274 to be replaced by a lysine (K). 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