19-49851410-G-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The ENST00000391842.6(PTOV1):c.82G>A(p.Val28Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000438 in 1,049,228 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000391842.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PTOV1 | NM_001394010.1 | c.82G>A | p.Val28Met | missense_variant | 1/12 | ENST00000391842.6 | NP_001380939.1 | |
PTOV1-AS1 | NR_040037.1 | n.109+158C>T | intron_variant, non_coding_transcript_variant | |||||
PTOV1 | NR_130963.2 | n.251+455G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PTOV1 | ENST00000391842.6 | c.82G>A | p.Val28Met | missense_variant | 1/12 | 5 | NM_001394010.1 | ENSP00000375717 | P1 | |
PTOV1-AS1 | ENST00000596521.1 | n.109+158C>T | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 2AN: 148922Hom.: 0 Cov.: 32 FAILED QC
GnomAD4 exome AF: 0.0000438 AC: 46AN: 1049228Hom.: 0 Cov.: 32 AF XY: 0.0000666 AC XY: 33AN XY: 495600
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000134 AC: 2AN: 149024Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 1AN XY: 72672
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 15, 2023 | The c.82G>A (p.V28M) alteration is located in exon 1 (coding exon 1) of the PTOV1 gene. This alteration results from a G to A substitution at nucleotide position 82, causing the valine (V) at amino acid position 28 to be replaced by a methionine (M). 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