19-49854521-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001364747.2(PTOV1):c.332G>T(p.Ser111Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000198 in 1,613,116 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_001364747.2 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 |
---|---|---|---|---|---|---|---|---|
PTOV1 | NM_001364747.2 | c.332G>T | p.Ser111Ile | missense_variant | Exon 2 of 13 | NP_001351676.1 | ||
PTOV1 | NM_001364749.2 | c.332G>T | p.Ser111Ile | missense_variant | Exon 2 of 13 | NP_001351678.1 | ||
PTOV1 | NM_001305105.2 | c.287G>T | p.Ser96Ile | missense_variant | Exon 2 of 13 | NP_001292034.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152168Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000998 AC: 25AN: 250538Hom.: 0 AF XY: 0.0000811 AC XY: 11AN XY: 135600
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1460948Hom.: 0 Cov.: 32 AF XY: 0.0000179 AC XY: 13AN XY: 726810
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152168Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74328
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.287G>T (p.S96I) alteration is located in exon 2 (coding exon 2) of the PTOV1 gene. This alteration results from a G to T substitution at nucleotide position 287, causing the serine (S) at amino acid position 96 to be replaced by an isoleucine (I). 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