1-99004658-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001037317.2(PLPPR5):c.14C>T(p.Pro5Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000335 in 1,610,524 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_001037317.2 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PLPPR5 | NM_001037317.2 | c.14C>T | p.Pro5Leu | missense_variant | Exon 1 of 6 | ENST00000263177.5 | NP_001032394.1 | |
PLPPR5 | NM_001010861.3 | c.14C>T | p.Pro5Leu | missense_variant | Exon 1 of 6 | NP_001010861.1 | ||
PLPPR5 | XM_011540838.4 | c.1-35C>T | intron_variant | Intron 1 of 6 | XP_011539140.1 | |||
PLPPR5-AS1 | NR_033940.1 | n.370+13G>A | intron_variant | Intron 1 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152008Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000864 AC: 21AN: 243148Hom.: 0 AF XY: 0.000128 AC XY: 17AN XY: 132774
GnomAD4 exome AF: 0.0000363 AC: 53AN: 1458516Hom.: 0 Cov.: 31 AF XY: 0.0000593 AC XY: 43AN XY: 725576
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152008Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74258
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.14C>T (p.P5L) alteration is located in exon 1 (coding exon 1) of the PLPPR5 gene. This alteration results from a C to T substitution at nucleotide position 14, causing the proline (P) at amino acid position 5 to be replaced by a leucine (L). 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