NM_020820.4:c.4552C>G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_020820.4(PREX1):c.4552C>G(p.Leu1518Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020820.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PREX1 | ENST00000371941.4 | c.4552C>G | p.Leu1518Val | missense_variant | Exon 36 of 40 | 1 | NM_020820.4 | ENSP00000361009.3 | ||
PREX1 | ENST00000482556.5 | n.2619C>G | non_coding_transcript_exon_variant | Exon 18 of 22 | 2 | ENSP00000434632.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251142Hom.: 0 AF XY: 0.00000737 AC XY: 1AN XY: 135738
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.4552C>G (p.L1518V) alteration is located in exon 36 (coding exon 36) of the PREX1 gene. This alteration results from a C to G substitution at nucleotide position 4552, causing the leucine (L) at amino acid position 1518 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