11-36401245-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001160167.2(PRR5L):c.124C>T(p.Arg42Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,613,252 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001160167.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRR5L | NM_001160167.2 | c.124C>T | p.Arg42Trp | missense_variant | Exon 2 of 9 | ENST00000530639.6 | NP_001153639.1 | |
PRR5L | NM_024841.5 | c.124C>T | p.Arg42Trp | missense_variant | Exon 3 of 10 | NP_079117.3 | ||
PRR5L | NM_001160169.1 | c.124C>T | p.Arg42Trp | missense_variant | Exon 1 of 7 | NP_001153641.1 | ||
PRR5L | NM_001160168.2 | c.3-18010C>T | intron_variant | Intron 1 of 5 | NP_001153640.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152088Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000360 AC: 9AN: 249924Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135344
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461046Hom.: 0 Cov.: 34 AF XY: 0.0000179 AC XY: 13AN XY: 726922
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152206Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74428
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.124C>T (p.R42W) alteration is located in exon 2 (coding exon 1) of the PRR5L gene. This alteration results from a C to T substitution at nucleotide position 124, causing the arginine (R) at amino acid position 42 to be replaced by a tryptophan (W). 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