BRICD5

Chr 16

BRICHOS domain containing 5

Also known as: C16orf79

NCBI Gene: 283870 ENSG00000182685 UniProt: Q6PL45

The BRICD5 protein is predicted to regulate cell population proliferation and is located in cellular membranes with activity in the extracellular space. Mutations in this gene have been associated with neurodevelopmental disorders, though the specific phenotypic spectrum and inheritance patterns require further clinical characterization. This gene shows tolerance to loss-of-function variants based on population genetics data.

ResearchSummary from RefSeq

Predicted to be involved in regulation of cell population proliferation. Predicted to be located in membrane. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 1.95

Clinical Summary— BRICD5

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

📋

ClinVar Variants

55 VUS of 77 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?

1.95LOEUF

pLI 0.000

Z-score -2.17

OE 1.66 (1.14–1.95)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.93Z-score

OE missense 1.46 (1.30–1.63)

208 obs / 143.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.66 (1.14–1.95)

0≤0.351.4

Missense OE?1.46 (1.30–1.63)

0≤0.61.4

Synonymous OE?1.65

0≤1.21.6

LoF obs/exp: 21 / 12.7Missense obs/exp: 208 / 143.0Syn Z: -4.01

ClinVar Variant Classifications

77 submitted variants in ClinVar

ClinVar

Classification Summary

VUS55

Likely Benign11

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	55	55
Likely Benign	11	11
Benign	0	0
Total	66	66

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

View in ClinVar →

36 pathogenic / likely-pathogenic (of 53) ClinVar copy-number / structural variants overlap BRICD5 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →