CCDC148

Chr 2

coiled-coil domain containing 148

NCBI Gene: 130940 ENSG00000153237 UniProt: Q8NFR7

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.51

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?

1.51LOEUF

pLI 0.000

Z-score -0.94

OE 1.17 (0.91–1.51)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.74Z-score

OE missense 1.12 (1.02–1.23)

319 obs / 283.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.17 (0.91–1.51)

0≤0.351.4

Missense OE?1.12 (1.02–1.23)

0≤0.61.4

Synonymous OE?1.22

0≤1.21.6

LoF obs/exp: 42 / 35.9Missense obs/exp: 319 / 283.7Syn Z: -1.69

Background carrier burden — how many people carry a rare variant somewhere in CCDC148?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 65

757 rare PASS variants

Rare truncating (LoF)

1 in 370

191 rare PASS variants

Rare synonymous (reference)

1 in 230

253 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC148. 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 140	1 in 530
South Asian	~43k	1 in 70	1 in 270
Remaining (unassigned)	~30k	1 in 65	1 in 350
European (Finnish)	~27k	1 in 410	1 in 600
Admixed American	~22k	1 in 60	1 in 200
African / African American	~21k	1 in 67	1 in 310
East Asian	~20k	1 in 79	1 in 280
Ashkenazi Jewish	~13k	1 in 1,100	1 in 360
Middle Eastern	~2,884	1 in 65	1 in 200

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 12 of 14 coding exons well covered in gnomAD exomes; exons 2, 4 marginal. Genomes: all 14.? see exons ↓