FAM219A

Chr 9

family with sequence similarity 219 member A

Also known as: C9orf25

NCBI Gene: 203259 ENSG00000164970 UniProt: Q8IW50 OMIM: 621663

The protein encoded by FAM219A has unknown function, with only basic structural information available from homologous proteins in other species. Mutations in this gene have not been definitively associated with any recognized human disease or neurological disorder. The gene shows moderate tolerance to loss-of-function variants based on population genetic data.

OMIM ResearchSummary from RefSeq

The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in FAM219A?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 450

241 rare PASS variants

Rare truncating (LoF)

1 in 6,400

31 rare PASS variants

Rare synonymous (reference)

1 in 350

121 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FAM219A. 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 7,900
South Asian	~43k	1 in 440	≈ 1 in 43,000
Remaining (unassigned)	~30k	1 in 480	≈ 1 in 7,300
European (Finnish)	~27k	1 in 5,300	1 in 2,900
Admixed American	~22k	1 in 170	≈ 1 in 18,000
African / African American	~21k	1 in 410	1 in 2,100
East Asian	~20k	1 in 350	≈ 1 in 20,000
Ashkenazi Jewish	~13k	1 in 1,800	none seen
Middle Eastern	~2,884	1 in 220	≈ 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 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓