RNF115

Chr 1

ring finger protein 115

Also known as: BCA2, RABRING7, ZFP364, ZNF364

NCBI Gene: 27246 ENSG00000265491 UniProt: Q9Y4L5 OMIM: 619535

Enables ubiquitin protein ligase activity. Involved in negative regulation of signal transduction; protein ubiquitination; and ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Is active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

DNmechanismLOEUF 0.81

Clinical Summary— RNF115

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Population Constraint (gnomAD)

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

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ClinVar Variants

47 VUS of 53 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?

0.81LOEUF

pLI 0.002

Z-score 2.13

OE 0.43 (0.24–0.81)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.47Z-score

OE missense 0.90 (0.79–1.03)

150 obs / 167.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.43 (0.24–0.81)

0≤0.351.4

Missense OE?0.90 (0.79–1.03)

0≤0.61.4

Synonymous OE?0.69

0≤1.21.6

LoF obs/exp: 7 / 16.3Missense obs/exp: 150 / 167.0Syn Z: 1.86

This gene — mechanism propensity

0.7132th %ile

GOF

0.4974th %ile

LOF

0.3745th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

53 submitted variants in ClinVar

ClinVar

Classification Summary

VUS47

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	46	1	47
Likely Benign	2	0	2
Benign	0	0	0
Total	48	1	49

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

View in ClinVar →

132 pathogenic / likely-pathogenic (of 230) ClinVar copy-number / structural variants overlap RNF115 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →