FAM72D

Chr 1

RUMY family member 4

Also known as: FAM72D, GCUD2

NCBI Gene: 728833ENSG00000215784UniProt: Q6L9T8OMIM: 614712

Located in cytosol and intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Apr 2025]

OMIMResearchGenerating clinical summary…
LOEUF 1.84
Clinical Summary— FAM72D
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.03) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
19 VUS of 21 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.84LOEUF
pLI 0.030
Z-score 0.19
OE 0.87 (0.33–1.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.69Z-score
OE missense 0.67 (0.48–0.95)
23 obs / 34.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.33–1.84)
0≤0.351.4
Missense OE?0.67 (0.48–0.95)
0≤0.61.4
Synonymous OE?0.62
0≤1.21.6
LoF obs/exp: 2 / 2.3Missense obs/exp: 23 / 34.3Syn Z: 1.02

ClinVar Variant Classifications

21 submitted variants in ClinVar

ClinVar

Classification Summary

VUS19
Likely Benign1
19
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
19
0
0
19
Likely Benign
0
0
0
1
1
Benign
0
0
0
0
0
Total0190120

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

22 pathogenic / likely-pathogenic (of 28) ClinVar copy-number / structural variants overlap FAM72D — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

FAM72D · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients