17-2043021-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080822.3(OVCA2):āc.601A>Cā(p.Thr201Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000039 in 1,613,714 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/18 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
OVCA2 | NM_080822.3 | c.601A>C | p.Thr201Pro | missense_variant | 2/2 | ENST00000572195.3 | NP_543012.1 | |
DPH1 | NM_001383.6 | c.*435A>C | 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.601A>C | p.Thr201Pro | missense_variant | 2/2 | 1 | NM_080822.3 | ENSP00000461388 | P1 | |
DPH1 | ENST00000263083.12 | c.*435A>C | 3_prime_UTR_variant | 13/13 | 1 | NM_001383.6 | ENSP00000263083 | P1 | ||
ENST00000572404.1 | n.352-51T>G | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151980Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000804 AC: 20AN: 248854Hom.: 0 AF XY: 0.0000965 AC XY: 13AN XY: 134780
GnomAD4 exome AF: 0.0000404 AC: 59AN: 1461734Hom.: 0 Cov.: 32 AF XY: 0.0000371 AC XY: 27AN XY: 727146
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151980Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74226
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 02, 2023 | The c.601A>C (p.T201P) alteration is located in exon 2 (coding exon 2) of the OVCA2 gene. This alteration results from a A to C substitution at nucleotide position 601, causing the threonine (T) at amino acid position 201 to be replaced by a proline (P). 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