CCDC70

Chr 13

coiled-coil domain containing 70

NCBI Gene: 83446 ENSG00000123171 UniProt: Q6NSX1

CCDC70 encodes a protein located in the plasma membrane, though its specific cellular function remains unclear. The gene shows low constraint against loss-of-function variants (pLI 0.009, LOEUF 1.78), and no well-established Mendelian diseases have been definitively linked to CCDC70 mutations in the current literature.

ResearchSummary from RefSeq

Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.78

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?

1.78LOEUF

pLI 0.009

Z-score 0.29

OE 0.83 (0.37–1.78)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.97Z-score

OE missense 1.24 (1.09–1.41)

166 obs / 134.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.83 (0.37–1.78)

0≤0.351.4

Missense OE?1.24 (1.09–1.41)

0≤0.61.4

Synonymous OE?1.20

0≤1.21.6

LoF obs/exp: 3 / 3.6Missense obs/exp: 166 / 134.3Syn Z: -1.11

Background carrier burden — how many people carry a rare variant somewhere in CCDC70?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

331 rare PASS variants

Rare truncating (LoF)

1 in 1,300

48 rare PASS variants

Rare synonymous (reference)

1 in 1,000

123 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC70. 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 180	1 in 1,200
South Asian	~43k	1 in 120	1 in 1,300
Remaining (unassigned)	~30k	1 in 110	1 in 1,500
European (Finnish)	~27k	1 in 1,800	none seen
Admixed American	~22k	1 in 130	1 in 1,000
African / African American	~21k	1 in 110	1 in 2,900
East Asian	~20k	1 in 120	1 in 2,500
Ashkenazi Jewish	~13k	1 in 1,200	none seen
Middle Eastern	~2,884	1 in 120	≈ 1 in 1,400

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 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓