11-36462567-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001160167.2(PRR5L):c.938G>T(p.Gly313Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000992 in 1,612,864 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRR5L | NM_001160167.2 | c.938G>T | p.Gly313Val | missense_variant | 9/9 | ENST00000530639.6 | |
PRR5L | NM_024841.5 | c.938G>T | p.Gly313Val | missense_variant | 10/10 | ||
PRR5L | NM_001160168.2 | c.554G>T | p.Gly185Val | missense_variant | 6/6 | ||
PRR5L | NM_001160169.1 | c.*193G>T | 3_prime_UTR_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRR5L | ENST00000530639.6 | c.938G>T | p.Gly313Val | missense_variant | 9/9 | 2 | NM_001160167.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000263 AC: 4AN: 152186Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000283 AC: 7AN: 247400Hom.: 0 AF XY: 0.0000298 AC XY: 4AN XY: 134130
GnomAD4 exome AF: 0.00000822 AC: 12AN: 1460678Hom.: 0 Cov.: 30 AF XY: 0.0000124 AC XY: 9AN XY: 726624
GnomAD4 genome ? AF: 0.0000263 AC: 4AN: 152186Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 13, 2023 | The c.938G>T (p.G313V) alteration is located in exon 9 (coding exon 8) of the PRR5L gene. This alteration results from a G to T substitution at nucleotide position 938, causing the glycine (G) at amino acid position 313 to be replaced by a valine (V). 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