8-17634095-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001372073.1(PDGFRL):c.821C>T(p.Thr274Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000031 in 1,613,950 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign 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. T274K) 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>T | p.Thr274Ile | missense_variant | 5/6 | ENST00000251630.11 | |
PDGFRL | NM_006207.2 | c.821C>T | p.Thr274Ile | missense_variant | 6/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PDGFRL | ENST00000251630.11 | c.821C>T | p.Thr274Ile | missense_variant | 5/6 | 5 | NM_001372073.1 | P1 | |
PDGFRL | ENST00000541323.1 | c.821C>T | p.Thr274Ile | missense_variant | 6/7 | 2 | P1 | ||
PDGFRL | ENST00000523248.1 | n.25C>T | non_coding_transcript_exon_variant | 1/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152242Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000795 AC: 2AN: 251478Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135910
GnomAD4 exome AF: 0.00000205 AC: 3AN: 1461708Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727180
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152242Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 26, 2022 | The c.821C>T (p.T274I) alteration is located in exon 6 (coding exon 5) of the PDGFRL gene. This alteration results from a C to T substitution at nucleotide position 821, causing the threonine (T) at amino acid position 274 to be replaced by an isoleucine (I). 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