RBAKDN

Chr 7

RBAK downstream neighbor

NCBI Gene: 389458 ENSG00000273313 UniProt: A6NC62

I notice that no information has been provided below your request for the gene RBAKDN. Without specific data about the protein function, associated diseases, inheritance pattern, or other clinical details for this gene, I cannot write an accurate clinical summary following your strict requirement to use only the provided information. Could you please provide the relevant clinical and functional data for RBAKDN?

Research

ResearchGenerating clinical summary…

GOFmechanism

Clinical Summary— RBAKDN

📋

ClinVar Variants

4 VUS of 5 total submissions

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

This gene — mechanism propensity

0.6064th %ile

GOF

0.7127th %ile

LOF

0.2774th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction 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

5 submitted variants in ClinVar

ClinVar

Classification Summary

VUS4

Likely Benign1

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	4	4
Likely Benign	1	1
Benign	0	0
Total	5	5

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

View in ClinVar →

15 pathogenic / likely-pathogenic (of 19) ClinVar copy-number / structural variants overlap RBAKDN — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →