NBR2

neighbor of BRCA1 lncRNA 2, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 17:43125420-43153671

Links

ENSG00000198496 ∙ NCBI:10230 ∙ OMIM:618708 ∙ HGNC:20691 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NBR2 gene.

• Breast-ovarian cancer, familial, susceptibility to, 1 (16 variants)
• Hereditary breast ovarian cancer syndrome (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NBR2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					16	16
Total	0	0	0	0	16

Variants in NBR2

This is a list of pathogenic ClinVar variants found in the NBR2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-43125422-TGCCAC-T			Uncertain significance (-)
17-43125428-G-A		Hereditary breast ovarian cancer syndrome	Uncertain significance (Jan 22, 2024)
17-43125443-A-C		Breast-ovarian cancer, familial, susceptibility to, 1	Likely benign (May 28, 2019)
17-43125443-A-G		not specified • Breast-ovarian cancer, familial, susceptibility to, 1 • Hereditary breast ovarian cancer syndrome • Hereditary cancer-predisposing syndrome	Benign (Jan 12, 2015)
17-43125524-C-T		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43125979-T-C		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43126099-T-C		Breast-ovarian cancer, familial, susceptibility to, 1 • Hereditary breast ovarian cancer syndrome	Benign (Jan 12, 2015)
17-43126360-G-A		Breast-ovarian cancer, familial, susceptibility to, 1 • Hereditary breast ovarian cancer syndrome	Benign (Jan 12, 2015)
17-43126708-C-G		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43126716-C-T		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43126870-C-T		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43126899-A-G		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43127210-G-A		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43127281-A-G		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43127512-A-G		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43127517-C-T		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43127544-G-C		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43127753-A-G		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43127820-C-A		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43127865-A-G		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)
17-43127866-GAC-G		Breast-ovarian cancer, familial, susceptibility to, 1	Benign (Jan 12, 2015)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.458

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.404

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: molecular_function