rs2074238540
Variant summary
Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2
The ENST00000391842.6(PTOV1):c.52G>A(p.Gly18Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000998 in 1,001,948 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in the same amino acid substitution has been previously reported as Uncertain significance in ClinVar.
Frequency
Consequence
ENST00000391842.6 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Uncertain_significance. The variant received 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PTOV1 | NM_001305105.2 | c.52G>A | p.Gly18Arg | missense_variant | Exon 1 of 13 | NP_001292034.1 | ||
PTOV1 | NM_001394010.1 | c.52G>A | p.Gly18Arg | missense_variant | Exon 1 of 12 | NP_001380939.1 | ||
PTOV1 | NM_017432.5 | c.52G>A | p.Gly18Arg | missense_variant | Exon 1 of 13 | NP_059128.2 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 9.98e-7 AC: 1AN: 1001948Hom.: 0 Cov.: 32 AF XY: 0.00000212 AC XY: 1AN XY: 471786 show subpopulations
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at