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.

60 entries on 1 page. Showing entries 1 - 60.
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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     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/. 18 c.8243G>A r.(?) p.(G2748D) FA FANCD1_00038 Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 Patient sample not available; mutation identified from parental sample. Deleterious per Farrugia DJ et al, 2008. Auerbach Lab - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Erik Teugels
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
+/. 18 c.8243G>A r.(?) p.Gly2748Asp - Unknown - NA g.32937582G>A g.32363445G>A G2748D - BRCA2_000301 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.8243G>A r.(?) p.Gly2748Asp - Unknown - NA g.32937582G>A g.32363445G>A G2748D - BRCA2_000301 Centrosome amplification; as variant control PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.8243G>A r.(?) p.Gly2748Asp - Unknown - NA g.32937582G>A g.32363445G>A G2748D - BRCA2_000301 Homology-directed repair assay; as variant control PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8243G>A r.(?) p.Gly2748Asp - Unknown - NA g.32937582G>A g.32363445G>A G2748D - BRCA2_000301 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8243G>A r.(?) p.Gly2748Asp - Unknown - NA g.32937582G>A g.32363445G>A G2748D - BRCA2_000301 Protein likelihood ratio model; predicted deleterious PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/+ 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic (dominant) g.32937582G>A g.32363445G>A - - BRCA2_000301 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 5 based on posterior probability = 1 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Guidigli 2013 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast ? - - - - Belgium - - - - - 1 Katrien Storm
+/. 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast ? - - - - Belgium - - - - - 1 Katrien Storm
+/. - c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A BRCA2(NM_000059.3):c.8243G>A (p.G2748D, p.Gly2748Asp) - BRCA2_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany white - - - - 1 Johan den Dunnen
+/. 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Germany unknown - - - - 3 Johan den Dunnen
+/. 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - 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
+/. 18 c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A - - BRCA2_000301 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United States white - - - - 4 Johan den Dunnen
+/. - c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - pathogenic g.32937582G>A g.32363445G>A G8243A - BRCA2_000301 - PubMed: Bhaskaran 2019 - (refs 81) - rs80359071 Germline - 1/133 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var431 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. - c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A g.32363445G>A BRCA2(NM_000059.3):c.8243G>A (p.G2748D, p.Gly2748Asp) - BRCA2_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic (dominant) g.32937582G>A g.32363445G>A - - BRCA2_000301 - Journal: Gao 2020 as reported in: PubMed: Lin 2016, Journal: Lin 2016 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Lin 2016, Journal: Lin 2016 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. - c.8243G>A r.(?) p.(Gly2748Asp) - Parent #1 - NA g.32937582G>A - chr13_32937582_G_A - BRCA2_000301 not in 53461 controls; 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.8243G>A r.(?) p.(Gly2748Asp) - Unknown - pathogenic g.32937582G>A - BRCA2(NM_000059.3):c.8243G>A (p.G2748D, p.Gly2748Asp) - BRCA2_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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