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.

56 entries on 1 page. Showing entries 1 - 56.
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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     
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 6i c.516+1G>A r.spl p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 6i c.516+1G>A r.spl? p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Erik Teugels
+/+ 6i c.516+1G>A r.spl? p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 6i c.516+1G>A r.spl? p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 6i c.516+1G>A r.spl? p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 6i c.516+1G>A r.spl? p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 6i c.516+1G>A r.spl? p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 6i c.516+1G>A r.spl? p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 6i c.516+1G>A r.spl? p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 6i c.516+1G>A r.spl? p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 6i c.516+1G>A r.spl? p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A IVS6+1G>A - BRCA2_000035 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
?/. 6i c.516+1G>A r.= ? - Unknown - NA g.32900420G>A g.32326283G>A IVS6+1G>A - BRCA2_000035 mRNA analysis (RT-PCR); as variant control PubMed: Claes 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6i c.516+1G>A r.spl? p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Germline - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - - - - 1 Kathleen Claes
+/. 6i c.516+1G>A r.spl? p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Germline - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - - - - 1 Kathleen Claes
+/. 6i c.516+1G>A r.spl? p.? - Unknown - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - - - - Germline - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - - - - 1 Kathleen Claes
+/. 6i c.516+1G>A r.spl p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Korea Asian - - - - 1 Johan den Dunnen
+/. 6i c.516+1G>A r.spl p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A - - BRCA2_000035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. - c.516+1G>A r.spl p.? - Parent #1 - pathogenic g.32900420G>A g.32326283G>A 516+1G>A - BRCA2_000035 - PubMed: Bhaskaran 2019 - (refs 88) - rs397507762 Germline - 1/313 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var30 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. 5i c.516+1G>A r.spl p.? - Unknown - pathogenic (dominant) g.32900420G>A g.32326283G>A - - BRCA2_000035 - Journal: Gao 2020 as reported in: PubMed: Li 2017, Journal: Li 2017 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Li 2017, Journal: Li 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. - c.516+1G>A r.spl? p.? - Parent #1 - NA g.32900420G>A - chr13_32900420_G_A - BRCA2_000035 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 - 2/60466 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 - 2 BRIDGES consortium
?/. - c.516+1G>A r.spl? p.? - Parent #1 - NA g.32900420G>A - chr13_32900420_G_A - BRCA2_000035 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 - 1/53461 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 - 1 BRIDGES consortium
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