Additional findings health related

Gene: BRCA2

Green List (high evidence)

BRCA2 (BRCA2, DNA repair associated)
EnsemblGeneIds (GRCh38): ENSG00000139618
EnsemblGeneIds (GRCh37): ENSG00000139618
OMIM: 600185, Gene2Phenotype
BRCA2 is in 36 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Clinically relevant transcript NM_000059.3
Created: 21 May 2018, 3:52 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Breast-ovarian cancer, familial, 2}, OMIM:612555
  • {Breast cancer, male, susceptibility to}, OMIM:114480
  • Adult only
Transcripts
  • ENST00000544455.5
  • NM_000059.3
Tags
adult-onset
OMIM
600185
Clinvar variants
Variants in BRCA2
Penetrance
None
Panels with this gene

History Filter Activity

4 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: BRCA2 were changed from Breast and ovarian cancer predisposition; Adult only to {Breast-ovarian cancer, familial, 2}, OMIM:612555; {Breast cancer, male, susceptibility to}, OMIM:114480; Adult only

27 Jan 2020, Gel status: 3

Set transcript

Catherine Snow (Genomics England)

Transcript for gene BRCA2 was changed from ENST00000544455.5 to ENST00000544455.5; NM_000059.3

19 Nov 2019, Gel status: 3

Removed Source, Removed Source, Added New Source, Set Phenotypes, Set transcript

Ellen McDonagh (Genomics England Curator)

Source Additional Findings was removed from BRCA2. Source ACMG was removed from BRCA2. Source Expert list was added to BRCA2. Phenotypes for gene: BRCA2 were changed from ENST00000544455.5; Breast and ovarian cancer predisposition; Adult only to Breast and ovarian cancer predisposition; Adult only Transcript for gene BRCA2 was changed from None to ENST00000544455.5

10 Oct 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: BRCA2 were changed from NM_000059.3; Breast and ovarian cancer predisposition; Adult only to ENST00000544455.5; Breast and ovarian cancer predisposition; Adult only

21 May 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for BRCA2 were set to NM_000059.3; Breast and ovarian cancer predisposition; Adult only

3 Apr 2018, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for BRCA2 were set to Breast and ovarian cancer predisposition; Adult only

3 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BRCA2 was added to Genomics England Secondary Findings panel. Sources: ACMG,Additional Findings

3 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

BRCA2 was created by Ellen McDonagh