OOSP2

Chr 11

oocyte secreted protein 2

Also known as: OOSP2A, PLAC1L, TMEM122

NCBI Gene: 219990 ENSG00000149507 UniProt: Q86WS3 OMIM: 620263

Involved in oocyte maturation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Involved in oocyte maturation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.33

LOEUF

GOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.33LOEUF

pLI 0.028

Z-score 1.07

OE 0.52 (0.24–1.33)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.46Z-score

OE missense 0.86 (0.71–1.04)

74 obs / 86.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.52 (0.24–1.33)

0≤0.351.4

Missense OE?0.86 (0.71–1.04)

0≤0.61.4

Synonymous OE?1.20

0≤1.21.6

LoF obs/exp: 3 / 5.8Missense obs/exp: 74 / 86.0Syn Z: -0.90

Background carrier burden — how many people carry a rare variant somewhere in OOSP2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 310

202 rare PASS variants

Rare truncating (LoF)

1 in 3,100

30 rare PASS variants

Rare synonymous (reference)

1 in 800

83 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for OOSP2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 600	1 in 3,300
South Asian	~43k	1 in 140	1 in 2,600
Remaining (unassigned)	~30k	1 in 220	1 in 920
European (Finnish)	~27k	≈ 1 in 8,900	none seen
Admixed American	~22k	1 in 380	≈ 1 in 22,000
African / African American	~21k	1 in 510	1 in 4,100
East Asian	~20k	1 in 160	1 in 2,300
Ashkenazi Jewish	~13k	1 in 1,500	≈ 1 in 6,300
Middle Eastern	~2,884	1 in 410	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 1 of 4 coding exons well covered in gnomAD exomes; exons 1, 2, 3 marginal. Genomes: all 4.? see exons ↓