OVCA2

Chr 17

OVCA2 serine hydrolase domain containing

NCBI Gene: 124641 ENSG00000262664 UniProt: Q8WZ82 OMIM: 607896

The OVCA2 protein functions as an ester hydrolase with specificity for long-chain alkyl ester substrates and exhibits activity in response to retinoic acid signaling. Currently, no definitive pediatric neurological disorders have been established to result from OVCA2 mutations based on the available data. The gene shows low constraint against loss-of-function variants (high LOEUF score), suggesting tolerance to inactivating mutations.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable hydrolase activity. Involved in response to retinoic acid. Located in cytoplasm. Biomarker of ovarian cancer. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.89

Clinical Summary— OVCA2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

60 VUS of 68 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.89LOEUF

pLI 0.000

Z-score -0.66

OE 1.29 (0.73–1.89)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.38Z-score

OE missense 1.35 (1.19–1.53)

166 obs / 123.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.29 (0.73–1.89)

0≤0.351.4

Missense OE?1.35 (1.19–1.53)

0≤0.61.4

Synonymous OE?1.34

0≤1.21.6

LoF obs/exp: 8 / 6.2Missense obs/exp: 166 / 123.0Syn Z: -1.96

ClinVar Variant Classifications

68 submitted variants in ClinVar

ClinVar

Classification Summary

VUS60

Likely Benign5

Benign3

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	60	0	0	60
Likely Benign	1	0	4	5
Benign	0	3	0	3
Total	61	3	4	68

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

63 pathogenic / likely-pathogenic (of 74) ClinVar copy-number / structural variants overlap OVCA2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →