TSGA10IP

Chr 11

testis specific 10 interacting protein

Also known as: FAM161C

NCBI Gene: 254187 ENSG00000175513 UniProt: Q3SY00

The protein is predicted to be involved in cilium organization and is active in the photoreceptor connecting cilium. Mutations cause autosomal recessive Leber congenital amaurosis, a severe early-onset retinal dystrophy that typically presents with congenital blindness or severe visual impairment in infancy. This condition primarily affects the visual system through disruption of photoreceptor function.

ResearchSummary from RefSeq

Predicted to be involved in cilium organization. Predicted to be located in cytoskeleton. Predicted to be active in photoreceptor connecting cilium. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TSGA10IP?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 63

723 rare PASS variants

Rare truncating (LoF)

1 in 270

169 rare PASS variants

Rare synonymous (reference)

1 in 190

329 rare PASS variants

Rare missense and truncating variants are carried at similar rates in TSGA10IP; this gene does not show strong loss-of-function constraint by this measure. 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 80	1 in 630
South Asian	~43k	1 in 52	1 in 500
Remaining (unassigned)	~30k	1 in 62	1 in 200
European (Finnish)	~27k	1 in 200	1 in 790
Admixed American	~22k	1 in 56	1 in 920
African / African American	~21k	1 in 63	1 in 420
East Asian	~20k	1 in 63	1 in 500
Ashkenazi Jewish	~13k	1 in 1,100	≈ 1 in 6,400
Middle Eastern	~2,884	1 in 70	1 in 220

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): All 8 coding exons well covered in gnomAD exomes and genomes.? see exons ↓