C2CD4D

Chr 1

C2 calcium dependent domain containing 4D

Also known as: FAM148D

NCBI Gene: 100191040 ENSG00000225556 UniProt: B7Z1M9

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.80

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.80LOEUF

pLI 0.130

Z-score 0.51

OE 0.58 (0.19–1.80)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.56Z-score

OE missense 0.84 (0.70–1.01)

80 obs / 95.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.58 (0.19–1.80)

0≤0.351.4

Missense OE?0.84 (0.70–1.01)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 1 / 1.7Missense obs/exp: 80 / 95.4Syn Z: 0.16

Background carrier burden — how many people carry a rare variant somewhere in C2CD4D?

gnomAD v4 · ~700k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 96

596 rare PASS variants

Rare truncating (LoF)

1 in 320

94 rare PASS variants

Rare synonymous (reference)

1 in 180

289 rare PASS variants

Rare missense and truncating variants are carried at similar rates in C2CD4D; this gene does not show strong loss-of-function constraint by this measure. 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)	~539k	1 in 180	1 in 1,100
South Asian	~40k	1 in 81	1 in 230
Remaining (unassigned)	~29k	1 in 110	1 in 570
European (Finnish)	~25k	1 in 180	1 in 3,500
African / African American	~21k	1 in 82	1 in 660
East Asian	~18k	1 in 120	1 in 450
Admixed American	~18k	1 in 140	1 in 400
Ashkenazi Jewish	~13k	1 in 400	≈ 1 in 5,000
Middle Eastern	~2,849	1 in 120	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): 0 of 1 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 1.? see exons ↓