OVCA2

OVCA2 serine hydrolase domain containing

Basic information

Region (hg38): 17:2042022-2043425

Links

ENSG00000262664 ∙ NCBI:124641 ∙ OMIM:607896 ∙ HGNC:24203 ∙ Uniprot:Q8WZ82 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OVCA2 gene.

• not_specified (52 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OVCA2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000080822.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			51	1		52
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	51	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OVCA2	protein_coding	protein_coding	ENST00000572195	2	1398

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000128	0.120	124417	0	98	124515	0.000394

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.38	166	123	1.35	0.00000654	1425
Missense in Polyphen		72	50.783	1.4178		589
Synonymous	-1.96	74	55.4	1.34	0.00000306	499
Loss of Function	-0.660	8	6.22	1.29	3.12e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00248	0.00248
Ashkenazi Jewish	0.00	0.00
East Asian	0.000598	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.000146	0.000144
Middle Eastern	0.000598	0.000598
South Asian	0.000163	0.000163
Other	0.000203	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.393
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.28

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.170
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.131

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ovca2

Gene ontology

• Biological process: response to retinoic acid
• Cellular component: nucleus;cytoplasm
• Molecular function: hydrolase activity