8-67952411-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_024870.4(PREX2):c.17G>T(p.Arg6Leu) 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 (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R6G) has been classified as Uncertain significance.
Frequency
Consequence
NM_024870.4 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 |
---|---|---|---|---|---|---|---|
PREX2 | NM_024870.4 | c.17G>T | p.Arg6Leu | missense_variant | 1/40 | ENST00000288368.5 | |
PREX2 | NM_025170.6 | c.17G>T | p.Arg6Leu | missense_variant | 1/24 | ||
PREX2 | XM_047422268.1 | c.17G>T | p.Arg6Leu | missense_variant | 1/28 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PREX2 | ENST00000288368.5 | c.17G>T | p.Arg6Leu | missense_variant | 1/40 | 1 | NM_024870.4 | P1 | |
PREX2 | ENST00000529398.5 | n.44G>T | non_coding_transcript_exon_variant | 1/24 | 1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1412616Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 698656
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 09, 2024 | The c.17G>T (p.R6L) alteration is located in exon 1 (coding exon 1) of the PREX2 gene. This alteration results from a G to T substitution at nucleotide position 17, causing the arginine (R) at amino acid position 6 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