17-2042745-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_080822.3(OVCA2):āc.325C>Gā(p.Leu109Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000212 in 1,601,812 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_080822.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OVCA2 | NM_080822.3 | c.325C>G | p.Leu109Val | missense_variant | 2/2 | ENST00000572195.3 | NP_543012.1 | |
DPH1 | NM_001383.6 | c.*159C>G | 3_prime_UTR_variant | 13/13 | ENST00000263083.12 | NP_001374.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
OVCA2 | ENST00000572195.3 | c.325C>G | p.Leu109Val | missense_variant | 2/2 | 1 | NM_080822.3 | ENSP00000461388 | P1 | |
DPH1 | ENST00000263083.12 | c.*159C>G | 3_prime_UTR_variant | 13/13 | 1 | NM_001383.6 | ENSP00000263083 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152218Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000168 AC: 4AN: 238434Hom.: 0 AF XY: 0.0000232 AC XY: 3AN XY: 129360
GnomAD4 exome AF: 0.0000221 AC: 32AN: 1449594Hom.: 0 Cov.: 32 AF XY: 0.0000264 AC XY: 19AN XY: 720734
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74384
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Mar 06, 2023 | The c.325C>G (p.L109V) alteration is located in exon 2 (coding exon 2) of the OVCA2 gene. This alteration results from a C to G substitution at nucleotide position 325, causing the leucine (L) at amino acid position 109 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