FAM219B

Chr 15

family with sequence similarity 219 member B

Also known as: C15orf17

NCBI Gene: 57184 ENSG00000178761 UniProt: Q5XKK7

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.68

LOEUF

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?

1.68LOEUF

pLI 0.000

Z-score 0.25

OE 0.89 (0.49–1.68)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.06Z-score

OE missense 1.02 (0.86–1.21)

96 obs / 94.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.89 (0.49–1.68)

0≤0.351.4

Missense OE?1.02 (0.86–1.21)

0≤0.61.4

Synonymous OE?0.64

0≤1.21.6

LoF obs/exp: 6 / 6.7Missense obs/exp: 96 / 94.4Syn Z: 1.84

Background carrier burden — how many people carry a rare variant somewhere in FAM219B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

296 rare PASS variants

Rare truncating (LoF)

1 in 2,800

62 rare PASS variants

Rare synonymous (reference)

1 in 1,300

126 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FAM219B. 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 270	1 in 2,700
South Asian	~43k	1 in 260	1 in 1,800
Remaining (unassigned)	~30k	1 in 240	1 in 5,000
European (Finnish)	~27k	1 in 930	≈ 1 in 7,600
Admixed American	~22k	1 in 170	1 in 3,500
African / African American	~21k	1 in 180	1 in 710
East Asian	~20k	1 in 230	≈ 1 in 6,500
Ashkenazi Jewish	~13k	1 in 240	none seen
Middle Eastern	~2,884	1 in 150	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): 4 of 5 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 5.? see exons ↓