ANKRD36C

Chr 2

ankyrin repeat domain 36C

The ANKRD36C protein is predicted to function as an ion channel inhibitor. Mutations in this gene have not been definitively associated with any recognized human diseases or clinical phenotypes in the current medical literature. The inheritance pattern and clinical significance of ANKRD36C variants remain to be established.

ResearchSummary from RefSeq

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in ANKRD36C?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 20

1,951 rare PASS variants

Rare truncating (LoF)

1 in 460

145 rare PASS variants

Rare synonymous (reference)

1 in 44

640 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ANKRD36C. 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 28	1 in 930
South Asian	~43k	1 in 18	1 in 670
Remaining (unassigned)	~30k	1 in 17	1 in 1,300
European (Finnish)	~27k	1 in 67	1 in 1,300
Admixed American	~22k	1 in 17	1 in 1,200
African / African American	~21k	1 in 15	1 in 700
East Asian	~20k	1 in 23	1 in 440
Ashkenazi Jewish	~13k	1 in 63	1 in 330
Middle Eastern	~2,884	1 in 24	none seen

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): 63 of 87 coding exons well covered in gnomAD exomes; exons 6, 9, 49, 50, 51 and 6 more poorly covered; exons 10, 13, 15, 16, 20 and 8 more marginal. Genomes: 66 of 87 (exons 2, 9, 10, 35, 36 and 16 more below).? see exons ↓