CCDC122

Chr 13

coiled-coil domain containing 122

NCBI Gene: 160857 ENSG00000151773 UniProt: Q5T0U0

The protein contains a coiled-coil domain, though its specific cellular function remains unclear. Mutations cause susceptibility to leprosy, with the gene showing relatively low constraint to loss-of-function variation. The inheritance pattern for leprosy susceptibility associated with this gene has not been definitively established.

ResearchSummary from RefSeq

This gene encodes a protein that contains a coiled-coil domain. Naturally occurring mutations in this gene are associated with leprosy. [provided by RefSeq, Apr 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.25LOEUF

pLI 0.000

Z-score 0.90

OE 0.74 (0.45–1.25)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.12Z-score

OE missense 1.03 (0.89–1.20)

122 obs / 118.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.74 (0.45–1.25)

0≤0.351.4

Missense OE?1.03 (0.89–1.20)

0≤0.61.4

Synonymous OE?0.82

0≤1.21.6

LoF obs/exp: 10 / 13.6Missense obs/exp: 122 / 118.4Syn Z: 0.86

Background carrier burden — how many people carry a rare variant somewhere in CCDC122?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

343 rare PASS variants

Rare truncating (LoF)

1 in 1,000

100 rare PASS variants

Rare synonymous (reference)

1 in 1,000

91 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC122. 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 470	1 in 1,100
South Asian	~43k	1 in 150	1 in 960
Remaining (unassigned)	~30k	1 in 200	1 in 760
European (Finnish)	~27k	1 in 710	1 in 3,700
Admixed American	~22k	1 in 340	1 in 550
African / African American	~21k	1 in 190	1 in 880
East Asian	~20k	1 in 250	1 in 660
Ashkenazi Jewish	~13k	1 in 2,500	1 in 610
Middle Eastern	~2,883	1 in 190	≈ 1 in 1,100

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): 3 of 5 coding exons well covered in gnomAD exomes; exons 4, 6 marginal. Genomes: all 5.? see exons ↓