C10ORF71

Chr 10AD

chromosome 10 open reading frame 71

Also known as: CEFIP, CMD1QQ

NCBI Gene: 118461 ENSG00000177354 UniProt: Q711Q0 OMIM: 621202

This protein activates the calcineurin/NFAT signaling pathway in cardiomyocytes and regulates myocardium morphogenesis, mass, and contractile function. Mutations cause autosomal dominant dilated cardiomyopathy (type 1QQ), primarily affecting cardiac muscle function and structure.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Predicted to be involved in positive regulation of calcineurin-NFAT signaling cascade. Predicted to be active in Z disc. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cardiomyopathy, dilated, 1QQMIM #621251

Clinical highlights

Gene–disease validity

Not independently assessedOMIM lists Cardiomyopathy, dilated, 1QQ; no ClinGen or GenCC tier

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.80

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.80LOEUF

pLI 0.000

Z-score 2.49

OE 0.55 (0.39–0.80)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.69Z-score

OE missense 0.93 (0.88–0.99)

765 obs / 820.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.55 (0.39–0.80)

0≤0.351.4

Missense OE?0.93 (0.88–0.99)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 20 / 36.2Missense obs/exp: 765 / 820.3Syn Z: 1.10

Background carrier burden — how many people carry a rare variant somewhere in C10ORF71?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 24

1,998 rare PASS variants

Rare truncating (LoF)

1 in 570

190 rare PASS variants

Rare synonymous (reference)

1 in 42

803 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for C10ORF71. 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 39	1 in 570
South Asian	~43k	1 in 23	1 in 340
Remaining (unassigned)	~30k	1 in 19	1 in 790
European (Finnish)	~27k	1 in 92	1 in 3,100
Admixed American	~22k	1 in 23	1 in 1,000
African / African American	~21k	1 in 25	1 in 700
East Asian	~20k	1 in 25	1 in 440
Ashkenazi Jewish	~13k	1 in 99	≈ 1 in 3,200
Middle Eastern	~2,884	1 in 21	1 in 570

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 ↓