Full data view for gene BRCA2

All records describing functional studies of specific variants.
BRCA2 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000059.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 15i c.7617+1G>A r.spl? p.? - Unknown - pathogenic g.32930747G>A g.32356610G>A - - BRCA2_002239 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+?/. 15i c.7617+1G>A r.7436_7617del p.Asp2479Alafs*8 - Unknown - likely pathogenic (dominant) g.32930747G>A g.32356610G>A IVS15+1G>A - BRCA2_002239 cDNA analysis shows aberrant splicing, skip exon 15 PubMed: Gutierrez-Enriquez 2008 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - BROVCA family PubMed: Gutierrez-Enriquez 2008 2-generation family, 2 affected sisters F - Spain - - - - - 2 Johan den Dunnen
+/+ 15i c.7617+1G>A r.5278_5332del p.? - Parent #1 - pathogenic (dominant) g.32930747G>A g.32356610G>A - - BRCA2_002239 Allele-specific assay on patient-derived mRNA demonstrated that the variant allele produces only predicted non-functional transcripts. Variant allele produces r.7436_7617del transcript (encoding predicted non-functional protein). ENIGMA classification criteria, PubMed: de Garibay 2014 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15i c.7617+1G>A r.spl p.? - Parent #1 - pathogenic g.32930747G>A g.32356610G>A - - BRCA2_002239 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada white - - - - 1 Johan den Dunnen
+/. 15i c.7617+1G>A r.spl p.? - Parent #1 - pathogenic g.32930747G>A g.32356610G>A - - BRCA2_002239 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Denmark unknown - - - - 1 Johan den Dunnen
+/. 15i c.7617+1G>A r.spl p.? - Parent #1 - pathogenic g.32930747G>A g.32356610G>A - - BRCA2_002239 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 61 families F - Denmark white - - - - 61 Johan den Dunnen
+/. 15i c.7617+1G>A r.spl p.? - Parent #1 - pathogenic g.32930747G>A g.32356610G>A - - BRCA2_002239 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France white - - - - 1 Johan den Dunnen
+/. 15i c.7617+1G>A r.spl p.? - Parent #1 - pathogenic g.32930747G>A g.32356610G>A - - BRCA2_002239 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany unknown - - - - 1 Johan den Dunnen
+/. 15i c.7617+1G>A r.spl p.? - Parent #1 - pathogenic g.32930747G>A g.32356610G>A - - BRCA2_002239 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - Spain white - - - - 8 Johan den Dunnen
+/. 15i c.7617+1G>A r.spl p.? - Parent #1 - pathogenic g.32930747G>A g.32356610G>A - - BRCA2_002239 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States white - - - - 3 Johan den Dunnen
+/. - c.7617+1G>A r.spl p.? - Parent #1 - pathogenic g.32930747G>A g.32356610G>A 7617+1G>A - BRCA2_002239 - PubMed: Bhaskaran 2019 - (refs 79) - rs397507922 Germline - - - - - DNA DHPLC - - cancer, breast BRCA1-var391 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
?/. - c.7617+1G>A r.spl? p.? - Parent #1 - NA g.32930747G>A - chr13_32930747_G_A - BRCA2_002239 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
?/. - c.7617+1G>A r.spl? p.? - Parent #1 - NA g.32930747G>A - chr13_32930747_G_A - BRCA2_002239 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 2 BRIDGES consortium
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