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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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Reference     

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dbSNP ID     

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Methylation     

Template     

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Disease     

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+/+ 14 c.7069_7070del r.(?) p.(Leu2357fs) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 14 c.7069_7070del r.(?) p.(Leu2357fs) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 14 c.7069_7070del r.(?) p.(Leu2357fs) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del 7069_7070delCT - BRCA2_001277 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 14 c.7069_7070del r.(?) p.(Leu2357fs) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del 7069_7070delCT - BRCA2_001277 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 14 c.7069_7070del r.(?) p.(Leu2357fs) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del 7069_7070delCT - BRCA2_001277 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 14 c.7069_7070del r.(?) p.(Leu2357fs) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del 7069_7070delCT - BRCA2_001277 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 14 c.7069_7070del r.(?) p.(Leu2357fs) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del 7069_7070delCT - BRCA2_001277 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 14 c.7069_7070del r.(?) p.(Leu2357fs) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del 7069_7070delCT - BRCA2_001277 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 14 c.7069_7070del r.(?) p.(Leu2357fs) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del 7069_7070delCT - BRCA2_001277 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 14 c.7069_7070del r.(?) p.(Leu2357fs) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del 7069_7070delCT - BRCA2_001277 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del 7297delCT (2357 Stop 2359) - BRCA2_001277 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 14 c.7069_7070del r.(?) p.(Leu2357ValfsTer2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - - - rs80359636 Germline - - - - - DNA MLPA, SEQ Blood - cancer, ovarian - - - F - Norway white - - - - 1 Bjørn Ivar Haukanes
+/. 11 c.7069_7070del r.(?) p.(Leu2357ValfsTer2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - - - rs80359636 Germline - - - - - DNA MLPA, SEQ Blood - cancer, ovarian - - - F - Norway white - - - - 1 Bjørn Ivar Haukanes
+/+ 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Unknown kConFab pathogenic g.32929059_32929060del g.32354922_32354923del BRCA2 7297_7298 del CT (STOP 2358) - BRCA2_001277 - kConFab variant classification: P - - Germline - 3/1658 - - - DNA SEQ - - cancer, breast - - 3 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 3 kConFab - Heather Thorne
+/+ 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic (dominant) g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del 7069_7070delCT - BRCA2_001277 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del 7069_7070delCT - BRCA2_001277 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del delCT - BRCA2_001277 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Nienke van der Stoep
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. - c.7069_7070del r.(?) p.(Leu2357ValfsTer2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del BRCA2(NM_000059.3):c.7069_7070del (p.(Leu2357ValfsTer2)), BRCA2(NM_000059.3):c.7069_7070delCT (p.L2357Vfs*2), BRCA2(NM_000059.4):c.7069_7070delCT ... - BRCA2_001277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7069_7070del r.(?) p.(Leu2357ValfsTer2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del BRCA2(NM_000059.3):c.7069_7070del (p.(Leu2357ValfsTer2)), BRCA2(NM_000059.3):c.7069_7070delCT (p.L2357Vfs*2), BRCA2(NM_000059.4):c.7069_7070delCT ... - BRCA2_001277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada unknown - - - - 1 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Canada white - - - - 4 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 13 families F - Denmark white - - - - 13 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France white - - - - 3 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - France unknown - - - - 5 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Germany white - - - - 2 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - Germany unknown - - - - 7 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - 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
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Italy white - - - - 2 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Spain white - - - - 2 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Sweden unknown - - - - 1 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 19 families F - United Kingdom (Great Britain) white - - - - 19 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States unknown - - - - 2 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 31 families F - United States white - - - - 31 Johan den Dunnen
+/. 14 c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Schwartz 2019 - - Germline - - - - - DNA SEQ - - cancer - PubMed: Schwartz 2019 - - - - - - - - - 1 Mathias Schwartz
+/. - c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - pathogenic (dominant) g.32929059_32929060del g.32354922_32354923del 7069_7070delCT - BRCA2_001277 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 5 families with BRCA1/BRCA2 variant carriers F - France - - - - - 5 Johan den Dunnen
+/. - c.7069_7070del r.(?) p.(Leu2357ValfsTer2) - Unknown - pathogenic g.32929059_32929060del g.32354922_32354923del BRCA2(NM_000059.3):c.7069_7070del (p.(Leu2357ValfsTer2)), BRCA2(NM_000059.3):c.7069_7070delCT (p.L2357Vfs*2), BRCA2(NM_000059.4):c.7069_7070delCT ... - BRCA2_001277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7069_7070del r.(?) p.Leu2357Valfs*2 - Unknown ACMG pathogenic g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - - - rs756538291 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - VUS g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 classified as class 3, 4 or 5 in 115/12850 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 - 148 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 148 UK Variant Sharing Initiative
?/. - c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - NA g.32929059_32929060del - chr13_32929057_TTC_T - BRCA2_001277 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 - 9/60466 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 - 9 BRIDGES consortium
?/. - c.7069_7070del r.(?) p.(Leu2357Valfs*2) - Parent #1 - NA g.32929059_32929060del - chr13_32929057_TTC_T - BRCA2_001277 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
+/. - c.7069_7070del r.(?) p.(Leu2357ValfsTer2) - Parent #1 ACMG pathogenic (dominant) g.32929059_32929060del g.32354922_32354923del - - BRCA2_001277 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat102 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.7069_7070del r.(?) p.(Leu2357ValfsTer2) - Unknown - pathogenic g.32929059_32929060del - BRCA2(NM_000059.3):c.7069_7070del (p.(Leu2357ValfsTer2)), BRCA2(NM_000059.3):c.7069_7070delCT (p.L2357Vfs*2), BRCA2(NM_000059.4):c.7069_7070delCT ... - BRCA2_001277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.7069_7070del r.(?) p.(Leu2357ValfsTer2) - Unknown - pathogenic g.32929059_32929060del - BRCA2(NM_000059.3):c.7069_7070del (p.(Leu2357ValfsTer2)), BRCA2(NM_000059.3):c.7069_7070delCT (p.L2357Vfs*2), BRCA2(NM_000059.4):c.7069_7070delCT ... - BRCA2_001277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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