CCDC7

Chr 10

coiled-coil domain containing 7

Also known as: BIOT2, BioT2-A, BioT2-B, BioT2-C, C10orf68

NCBI Gene: 79741 ENSG00000216937 UniProt: Q96M83 OMIM: 619444

The protein encoded by this gene may be involved in cellular processes related to tumorigenesis, though its specific function remains unclear. This gene is not well-constrained against loss-of-function variants (LOEUF 0.982), suggesting tolerance to protein-truncating mutations. Currently, no established Mendelian diseases have been definitively linked to mutations in CCDC7 in pediatric populations.

OMIM ResearchSummary from UniProt

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.98

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.98LOEUF

pLI 0.000

Z-score 1.64

OE 0.69 (0.50–0.98)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.35Z-score

OE missense 0.93 (0.83–1.05)

209 obs / 223.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.69 (0.50–0.98)

0≤0.351.4

Missense OE?0.93 (0.83–1.05)

0≤0.61.4

Synonymous OE?1.12

0≤1.21.6

LoF obs/exp: 23 / 33.2Missense obs/exp: 209 / 223.6Syn Z: -0.85

Background carrier burden — how many people carry a rare variant somewhere in CCDC7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 34

1,705 rare PASS variants

Rare truncating (LoF)

1 in 180

431 rare PASS variants

Rare synonymous (reference)

1 in 87

579 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC7. 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 41	1 in 250
South Asian	~43k	1 in 31	1 in 96
Remaining (unassigned)	~30k	1 in 34	1 in 160
European (Finnish)	~27k	1 in 170	1 in 450
Admixed American	~22k	1 in 29	1 in 110
African / African American	~21k	1 in 26	1 in 100
East Asian	~20k	1 in 30	1 in 150
Ashkenazi Jewish	~13k	1 in 130	1 in 520
Middle Eastern	~2,884	1 in 33	1 in 140

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 15 of 42 coding exons well covered in gnomAD exomes; exons 21, 22, 34 poorly covered; exons 3, 4, 5, 8, 10 and 19 more marginal. Genomes: all 42.? see exons ↓