SPATA31F3

Chr 9

SPATA31 subfamily F member 3

Also known as: FAM205C, FAM205CP

NCBI Gene: 100129969 ENSG00000187791 UniProt: A6NFA0

The protein encoded by this gene is predicted to be located in cellular membranes, though its specific function remains unclear. Currently, no established disease associations or inheritance patterns have been reported for SPATA31F3 mutations in the medical literature. This gene lacks sufficient clinical data to provide definitive genotype-phenotype correlations for diagnostic purposes.

ResearchSummary from RefSeq

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SPATA31F3?

gnomAD v4 · ~415k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

233 rare PASS variants

Rare truncating (LoF)

1 in 1,100

58 rare PASS variants

Rare synonymous (reference)

1 in 510

89 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SPATA31F3. 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)	~295k	1 in 150	1 in 1,500
South Asian	~31k	1 in 110	1 in 930
European (Finnish)	~21k	1 in 650	1 in 810
African / African American	~21k	1 in 120	1 in 1,200
Remaining (unassigned)	~19k	1 in 150	1 in 890
Admixed American	~17k	1 in 170	≈ 1 in 7,600
East Asian	~17k	1 in 160	1 in 860
Ashkenazi Jewish	~9,790	1 in 590	≈ 1 in 4,600
Middle Eastern	~2,240	1 in 350	1 in 320

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): 0 of 5 coding exons well covered in gnomAD exomes; exons 1, 2, 3, 4, 5 poorly covered. Genomes: all 5.? see exons ↓