19-49854970-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000391842.6(PTOV1):āc.451A>Gā(p.Thr151Ala) variant causes a missense, splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000401 in 1,495,346 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/23 in silico tools predict a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
ENST00000391842.6 missense, splice_region
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/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PTOV1 | NM_001394010.1 | c.451A>G | p.Thr151Ala | missense_variant, splice_region_variant | 5/12 | ENST00000391842.6 | NP_001380939.1 | |
PTOV1 | NR_130963.2 | n.531A>G | splice_region_variant, non_coding_transcript_exon_variant | 5/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PTOV1 | ENST00000391842.6 | c.451A>G | p.Thr151Ala | missense_variant, splice_region_variant | 5/12 | 5 | NM_001394010.1 | ENSP00000375717 | P1 | |
ENST00000601211.1 | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000279 AC: 4AN: 143114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000445 AC: 1AN: 224520Hom.: 0 AF XY: 0.00000824 AC XY: 1AN XY: 121348
GnomAD4 exome AF: 0.00000148 AC: 2AN: 1352100Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 670796
GnomAD4 genome AF: 0.0000279 AC: 4AN: 143246Hom.: 0 Cov.: 32 AF XY: 0.0000287 AC XY: 2AN XY: 69578
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 12, 2023 | The c.451A>G (p.T151A) alteration is located in exon 5 (coding exon 5) of the PTOV1 gene. This alteration results from a A to G substitution at nucleotide position 451, causing the threonine (T) at amino acid position 151 to be replaced by an alanine (A). 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