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.

63 entries on 1 page. Showing entries 1 - 63.
Legend   How to query  

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     
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - VUS g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - VUS g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - VUS g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/? 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - VUS g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C 8395G>C (2723 Asp to His) - BRCA2_000290 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
?/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 - PubMed: Chenevix-Trench 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Homology-directed repair assay; as variant control PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Centrosome amplification; as variant control PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Prevalence in normal controls; predicted neutral PubMed: Goldgar 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Goldgar 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Protein likelihood ratio model; predicted deleterious PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Nuclear localisation; as variant control PubMed: Kuznetsov 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Cell viability (in BRCA-/- cells); as variant control PubMed: Kuznetsov 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Nuclear localisation; as variant control PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Centrosome amplification; as variant control PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Homology-directed repair assay; as variant control PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Survival assay with VC8 (after MMC treatment); predicted deleterious PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 Co-segregation in families; predicted deleterious PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8167G>C r.(?) p.Asp2723His - Unknown - NA g.32937506G>C g.32363369G>C D2723H - BRCA2_000290 evolutionary conservation analysis; predicted deleterious PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown kConFab pathogenic g.32937506G>C g.32363369G>C BRCA2 8395 G>C (D2723H) - BRCA2_000290 - kConFab variant classification: P - - Germline - 4/1658 - - - DNA SEQ - - cancer, breast - - 4 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 4 kConFab - Heather Thorne
+?/. 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - likely pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Germline - - - - - DNA SEQ Blood - - - - - M - - - - - - - 1 Pinar Tulay
+/+ 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic (dominant) g.32937506G>C g.32363369G>C - - BRCA2_000290 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.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast ? - - - - Belgium - - - - - 1 Katrien Storm
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. - c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C BRCA2(NM_000059.3):c.8167G>C (p.D2723H), BRCA2(NM_000059.4):c.8167G>C (p.D2723H) - BRCA2_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C BRCA2(NM_000059.3):c.8167G>C (p.D2723H), BRCA2(NM_000059.4):c.8167G>C (p.D2723H) - BRCA2_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C BRCA2(NM_000059.3):c.8167G>C (p.D2723H), BRCA2(NM_000059.4):c.8167G>C (p.D2723H) - BRCA2_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C BRCA2(NM_000059.3):c.8167G>C (p.D2723H), BRCA2(NM_000059.4):c.8167G>C (p.D2723H) - BRCA2_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - France unknown - - - - 4 Johan den Dunnen
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - France white - - - - 6 Johan den Dunnen
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 9 families F - Germany unknown - - - - 9 Johan den Dunnen
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Italy white - - - - 1 Johan den Dunnen
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Spain white - - - - 1 Johan den Dunnen
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - 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
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 14 families F - United Kingdom (Great Britain) white - - - - 14 Johan den Dunnen
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States unknown - - - - 1 Johan den Dunnen
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 18 families F - United States white - - - - 18 Johan den Dunnen
+/. 18 c.8167G>C r.(?) p.(Asp2723Gly) - Unknown - pathogenic g.32937506G>C g.32363369G>C - - BRCA2_000290 - PubMed: Jakimovska 2018 - rs41293513 Germline - 1/313 cases - - - DNA SEQ - - BROVCA - PubMed: Jakimovska 2018 cases M - Macedonia - - - - - 1 Johan den Dunnen
+/. 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C g.32363369G>C 8167G>C - BRCA2_000290 - PubMed: Maleva 2012, Journal: Laitman 2019 - rs41293513 Germline - 1/100 cases - - - DNA SEQ - - BROVCA - PubMed: Maleva 2012, Journal: Laitman 2019 cases F - Macedonia - - - - - 1 Eitan Friedman
+/. - c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - pathogenic (dominant) g.32937506G>C g.32363369G>C - - BRCA2_000290 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - - - - 2 Johan den Dunnen
?/. - c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - NA g.32937506G>C - chr13_32937506_G_C - BRCA2_000290 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 - 13/60466 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 - 13 BRIDGES consortium
+?/. 18 c.8167G>C r.(?) p.(Asp2723His) - Unknown - likely pathogenic (dominant) g.32937506G>C g.32363369G>C - - BRCA2_000290 - PubMed: Van Der Merwe 2022 - rs41293511 Germline - - - - - DNA SEQ - - BROVCA families PubMed: Van Der Merwe 2022 3 families F - South Africa - - - - - 3 Johan den Dunnen
?/. - c.8167G>C r.(?) p.(Asp2723His) - Parent #1 - VUS g.32937506G>C g.32363369G>C - - BRCA2_000290 classified as class 3, 4 or 5 in 74/12850 targeted tests and 33/25800 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 - 107 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 107 UK Variant Sharing Initiative
+/. - c.8167G>C r.(?) p.(Asp2723His) - Unknown - pathogenic g.32937506G>C - - - BRCA2_000290 - - - rs41293511 Unknown - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.