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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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:
- Nijmegen breakage syndrome Monarch
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)