19-49851377-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000391842.6(PTOV1):āc.49C>Gā(p.Leu17Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000105 in 1,147,582 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 (ā ).
Frequency
Consequence
ENST00000391842.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PTOV1 | NM_001394010.1 | c.49C>G | p.Leu17Val | missense_variant | 1/12 | ENST00000391842.6 | NP_001380939.1 | |
PTOV1-AS1 | NR_040037.1 | n.109+191G>C | intron_variant, non_coding_transcript_variant | |||||
PTOV1 | NR_130963.2 | n.251+422C>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PTOV1 | ENST00000391842.6 | c.49C>G | p.Leu17Val | missense_variant | 1/12 | 5 | NM_001394010.1 | ENSP00000375717 | P1 | |
PTOV1-AS1 | ENST00000596521.1 | n.109+191G>C | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes AF: 0.00000672 AC: 1AN: 148910Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.0000110 AC: 11AN: 998672Hom.: 0 Cov.: 32 AF XY: 0.0000106 AC XY: 5AN XY: 470154
GnomAD4 genome AF: 0.00000672 AC: 1AN: 148910Hom.: 0 Cov.: 32 AF XY: 0.0000138 AC XY: 1AN XY: 72620
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Nov 08, 2022 | The c.49C>G (p.L17V) alteration is located in exon 1 (coding exon 1) of the PTOV1 gene. This alteration results from a C to G substitution at nucleotide position 49, causing the leucine (L) at amino acid position 17 to be replaced by a valine (V). 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