WDR76

Chr 15

WD repeat domain 76

Also known as: CDW14, CMR1

NCBI Gene: 79968 ENSG00000092470 UniProt: Q9H967 OMIM: 620302

Enables enzyme binding activity. Involved in DNA damage response. Located in heterochromatin; nucleus; and site of DNA damage. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Enables enzyme binding activity. Involved in DNA damage response. Located in heterochromatin; nucleus; and site of DNA damage. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.85

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.85LOEUF

pLI 0.000

Z-score 2.22

OE 0.58 (0.40–0.85)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.46Z-score

OE missense 0.93 (0.85–1.02)

320 obs / 344.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.58 (0.40–0.85)

0≤0.351.4

Missense OE?0.93 (0.85–1.02)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 19 / 32.7Missense obs/exp: 320 / 344.1Syn Z: -0.21

Background carrier burden — how many people carry a rare variant somewhere in WDR76?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 88

799 rare PASS variants

Rare truncating (LoF)

1 in 940

136 rare PASS variants

Rare synonymous (reference)

1 in 93

307 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for WDR76. 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 150	1 in 1,100
South Asian	~43k	1 in 56	1 in 430
Remaining (unassigned)	~30k	1 in 61	1 in 700
European (Finnish)	~27k	1 in 280	≈ 1 in 13,000
Admixed American	~22k	1 in 66	1 in 770
African / African American	~21k	1 in 58	1 in 850
East Asian	~20k	1 in 80	1 in 540
Ashkenazi Jewish	~13k	1 in 500	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 79	≈ 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 13 coding exons well covered in gnomAD exomes and genomes.? see exons ↓