NBN
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NBN (HGNC:7652) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
nibrin
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
NBS, NBS1
Alias symbols
ATV, AT-V2, AT-V1
%HI
19.03(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.06(Read more about gnomAD LOEUF score)
Cytoband
8q21.3
Genomic Coordinates
GRCh37/hg19: chr8:90945559-90996895 NCBI Ensembl UCSC
GRCh38/hg38: chr8:89933331-89984667 NCBI Ensembl UCSC
MANE Select Transcript
NM_002485.5 ENST00000265433.8 (Read more about MANE Select)
Function
Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double- strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand- specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28981
ClinGen Curation ID:
CCID:007520
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Assoc. with Reduced Penetrance:
No
Last Evaluated:
04/10/2024

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Biallelic pathogenic variation in NBN is associated with Nijmegen breakage syndrome (NBS), an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The genetic mechanism of this disorder is loss of function, with over 90% of all NBS patients being homozygous for a 5 bp deletion [NM_002485.5(NBN):c.657_661del (p.Lys219fs), commonly described in the literature as 657del5], that gives rise to a frameshift.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence for triplosensitivity

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)