NM_002728.6:c.13T>G
Variant summary
Our verdict is Uncertain significance. The variant received 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_002728.6(PRG2):c.13T>G(p.Leu5Val) 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_002728.6 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRG2 | NM_002728.6 | c.13T>G | p.Leu5Val | missense_variant | Exon 2 of 6 | ENST00000311862.10 | NP_002719.3 | |
PRG2 | NM_001302926.2 | c.13T>G | p.Leu5Val | missense_variant | Exon 2 of 6 | NP_001289855.1 | ||
PRG2 | NM_001302927.2 | c.13T>G | p.Leu5Val | missense_variant | Exon 2 of 6 | NP_001289856.1 | ||
PRG2 | NM_001243245.3 | c.13T>G | p.Leu5Val | missense_variant | Exon 2 of 6 | NP_001230174.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRG2 | ENST00000311862.10 | c.13T>G | p.Leu5Val | missense_variant | Exon 2 of 6 | 1 | NM_002728.6 | ENSP00000312134.5 | ||
ENSG00000254979 | ENST00000529411.1 | c.328T>G | p.Leu110Val | missense_variant | Exon 3 of 4 | 4 | ENSP00000431536.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 46
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at