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.

47 entries on 1 page. Showing entries 1 - 47.
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Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

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Disease     

ID_report     

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+/+ 13 c.7007G>A r.(spl?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 13 c.7007G>A r.(spl?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 13 c.7007G>A r.(spl?) p.(Arg2336His) - Unknown - VUS g.32921033G>A g.32346896G>A - - BRCA2_000175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/. 13 c.7007G>A r.spl p.(Arg2336His) FA FANCD1_00023 Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Howlett 2002 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A 7235G/A (2336 Arg to His) - BRCA2_000175 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 13 c.7007G>A r.6938_7007del p.Gly2313Alafs*40 - Unknown - NA g.32921033G>A g.32346896G>A - - BRCA2_000175 NNSPLICE and lymphocyte RT-PCR; SD disruption, exon 13 skipping PubMed: Sanz 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.7007G>A r.(?) p.Arg2336His - Unknown - NA g.32921033G>A g.32346896G>A R2336H - BRCA2_000175 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.7007G>A r.(?) p.Arg2336His - Unknown - NA g.32921033G>A g.32346896G>A R2336H - BRCA2_000175 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.7007G>A r.spl p.Arg2336His - Unknown - NA g.32921033G>A g.32346896G>A R2336H - BRCA2_000175 mRNA analysis (RT-PCR); predicted deleterious PubMed: Thomassen 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 13 c.7007G>A r.spl p.Arg2336His - Unknown - NA g.32921033G>A g.32346896G>A R2336H - BRCA2_000175 Embryonic stem cell assay, RNA analysis; aberrant splicing, HR deficient PubMed: Biswas 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 13 c.7007G>A r.(?) p.(Arg2336His) - Unknown kConFab pathogenic g.32921033G>A g.32346896G>A BRCA2 7235G>A (R2336H) - BRCA2_000175 - kConFab variant classification: P - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
+?/. 13 c.7007G>A r.[6842_7007del, 6938_7007del] p.[(Gly2281fs), (Gly2313fs)] - Parent #1 - likely pathogenic g.32921033G>A g.32346896G>A 7235G>A (skipping_ex12,13) - BRCA2_000175 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. - c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A BRCA2(NM_000059.3):c.7007G>A (p.R2336H, p.(Arg2336His)), BRCA2(NM_000059.4):c.7007G>A (p.R2336H) - BRCA2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A BRCA2(NM_000059.3):c.7007G>A (p.R2336H, p.(Arg2336His)), BRCA2(NM_000059.4):c.7007G>A (p.R2336H) - BRCA2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A BRCA2(NM_000059.3):c.7007G>A (p.R2336H, p.(Arg2336His)), BRCA2(NM_000059.4):c.7007G>A (p.R2336H) - BRCA2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - - - DNA SEQ-NG - - BROVCA 29176636-Pat PubMed: Arai 2018, Journal: Arai 2018 analysis 860 breast/ovarian cancer pedigrees - - Japan - - - - - 1 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Czech Republic white - - - - 1 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Denmark white - - - - 3 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France white - - - - 2 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France unknown - - - - 3 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - 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
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - 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
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hungary white - - - - 1 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - Italy white - - - - 8 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Portugal white - - - - 1 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Spain unknown - - - - 1 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Spain white - - - - 4 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United Kingdom (Great Britain) white - - - - 3 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Asian - - - - 1 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 10 families F - United States white - - - - 10 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - - - rs28897743 Germline - 1/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 13 c.7007G>A r.spl p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A 7235G>A (ex12-13 skip ) - BRCA2_000175 - PubMed: Konstantopoulou 20008 - - Germline - 1/127 case families - - - DNA DHPLC, SEQ - - BROVCA - PubMed: Konstantopoulou 20008 cases F - Greece - - - - - 1 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A 7235G>A - BRCA2_000175 - PubMed: Laitman 2011 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Laitman 2011 cases F - Israel white - - - - 1 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A R2336H - BRCA2_000175 - Laitman, submitted - rs28897743 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Iran - - - - - 1 Eitan Friedman
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A R2336H - BRCA2_000175 - Laitman, submitted - rs28897743 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Italy - - - - - 1 Eitan Friedman
+/. 13 c.7007G>A r.spl p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Alhugail 2018, Journal: Laitman 2019 - rs28897743 Germline - 1/173 cases - - - DNA SEQ - - BROVCA - PubMed: Alhugail 2018, Journal: Laitman 2019 cases F - Saudi Arabia Arab - - - - 1 Eitan Friedman
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Bu 2016, Journal: Laitman 2019 - rs28897743 Germline - - - - - DNA SEQ - - BROVCA - PubMed: Bu 2016, Journal: Laitman 2019 cases F - Saudi Arabia Arab - - - - 2 Eitan Friedman
+/. - c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic g.32921033G>A g.32346896G>A 7007G>A, G7007A - BRCA2_000175 - PubMed: Bhaskaran 2019 - (refs 76, 79, 80, 87, 90, 91) - rs28897743 Germline - 7/11225 cases - - - DNA SEQ-NG, SEQ - - cancer, breast BRCA1-var354 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 7 Johan den Dunnen
+/. - c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic (dominant) g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - - - - 2 Johan den Dunnen
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic (dominant) g.32921033G>A g.32346896G>A - - BRCA2_000175 - Journal: Gao 2020 as reported in: PubMed: Yang 2015, Journal: Yang 2015, PubMed: Zhao 2017, Journal: Zhao 2017, PubMed: Sun 2017, Journal: Sun 2017, PubMed: Lang 2017, Journal: Lang 2017, Xiaochen Yang 2014 - - Germline - 6 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Yang 2015, Journal: Yang 2015, PubMed: Zhao 2017, Journal: Zhao 2017, PubMed: Sun 2017, Journal: Sun 2017, PubMed: Lang 2017, Journal: Lang 2017, Xiaochen Yang 2014 breast/ovarian cancer families/patients - - China - - - - - 6 Xianqi Gao
?/. - c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - VUS g.32921033G>A g.32346896G>A - - BRCA2_000175 classified as class 3, 4 or 5 in 18/12850 targeted tests and 8/25800 full screen tests: PHE release 2 BRCA germline variants (June 19, 2019). Entry from British diagnostic laboratories uploaded via Public Health England. Where benign/likely benign variants were excluded. Currently variants are classified as either "3, 4 or 5" or "1, 2, 3, 4 or 5". UK Variant Sharing Initiative - - CLASSIFICATION record - 26 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 26 UK Variant Sharing Initiative
+/. 13 c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - pathogenic (dominant) g.32921033G>A g.32346896G>A - - BRCA2_000175 - PubMed: Santonocito 2020 - rs28897743 Germline - 7/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 7 Johan den Dunnen
?/. - c.7007G>A r.(?) p.(Arg2336His) - Parent #1 - NA g.32921033G>A - chr13_32921033_G_A - BRCA2_000175 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.7007G>A r.(?) p.(Arg2336His) - Parent #1 - NA g.32921033G>A - chr13_32921033_G_A - BRCA2_000175 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 - 3/53461 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 - 3 BRIDGES consortium
+/. - c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A - BRCA2(NM_000059.3):c.7007G>A (p.R2336H, p.(Arg2336His)), BRCA2(NM_000059.4):c.7007G>A (p.R2336H) - BRCA2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7007G>A r.(?) p.(Arg2336His) - Unknown - pathogenic g.32921033G>A - BRCA2(NM_000059.3):c.7007G>A (p.R2336H, p.(Arg2336His)), BRCA2(NM_000059.4):c.7007G>A (p.R2336H) - BRCA2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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