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.

88 entries on 1 page. Showing entries 1 - 88.
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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     
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3847_3848del r.(?) p.(Val1283fs) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del 4075delGT (1283 Stop 1284) - BRCA2_001202 - - - - Unknown - - - - - DNA MCA, MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del 4075delGT (1283 Stop 1284) - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del 4075delGT (1283 Stop 1284) - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del 4075delGT (1283 Stop 1284) - BRCA2_001202 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del c.3847_3838delGT - BRCA2_001202 - Pölsler et al. 2015, submitted - - Germline - 1/238 patients - - - DNA SEQ Leukocytes - BROVCA2 - Pölsler 2015, submitted - F no (Austria) - - - - - 1 Raphael Johannes Morscher
+/. 11 c.3847_3848del r.(?) p.(Val1283LysfsTer2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - rs80359405 Germline - - - - - DNA MLPA, SEQ, TaqMan Blood - cancer, breast - - - F - Norway white - - - - 1 Bjørn Ivar Haukanes
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown kConFab pathogenic g.32912339_32912340del g.32338202_32338203del BRCA2 4075_4076 del GT (STOP 1284) - BRCA2_001202 - kConFab variant classification: P - - Germline - 10/1658 - - - DNA SEQ - - cancer, breast - - 10 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 10 kConFab - Heather Thorne
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Germline - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - - - - 1 Kathleen Claes
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Germline - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - - - - 1 Kathleen Claes
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 2 families (BRCA1/2 screening) - - Greece - - - - - 2 Florentia Fostira
+/+ 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic (dominant) g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3847_3848del r.(?) p.(Thr1282Asnfs*3) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. - c.3847_3848del r.(?) p.(Val1283LysfsTer2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del BRCA2(NM_000059.3):c.3847_3848del (p.(Val1283Lysfs*2)), BRCA2(NM_000059.3):c.3847_3848delGT (p.V1283Kfs*2), BRCA2(NM_000059.3):c.3847_3848delGT (p...) - BRCA2_001202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3847_3848del r.(?) p.(Val1283LysfsTer2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del BRCA2(NM_000059.3):c.3847_3848del (p.(Val1283Lysfs*2)), BRCA2(NM_000059.3):c.3847_3848delGT (p.V1283Kfs*2), BRCA2(NM_000059.3):c.3847_3848delGT (p...) - BRCA2_001202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - Austria white - - - - 6 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada Asian - - - - 1 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - 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
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - 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
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Czech Republic white - - - - 3 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 16 families F - Denmark white - - - - 16 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Finland white - - - - 1 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - 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
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - Germany white - - - - 6 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 30 families F - Germany unknown - - - - 30 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Hungary white - - - - 2 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Italy white - - - - 3 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - 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
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Lithuania white - - - - 4 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Poland white - - - - 1 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Singapore Asian - - - - 1 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Spain white - - - - 3 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Sweden unknown - - - - 2 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Sweden white - - - - 4 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 10 families F - United Kingdom (Great Britain) white - - - - 10 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - 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
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States African American - - - - 2 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States Jewish-Ashkenazi - - - - 3 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States unknown - - - - 3 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 37 families F - United States white - - - - 37 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 4075delGT - BRCA2_001202 - PubMed: Laitman 2011 - rs80359405 Germline - - - - - DNA SEQ - - BROVCA - PubMed: Laitman 2011 cases F - Israel Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 4075delGT - BRCA2_001202 - Laitman, submitted - rs80359405 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Greece - - - - - 1 Eitan Friedman
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del 4075delGT - BRCA2_001202 - Laitman, submitted - rs80359405 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Israel Jewish-Ashkenazi - - - - 1 Eitan Friedman
+/. - c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic g.32912339_32912340del g.32338202_32338203del 3846_3847delTG, 3846_3847del - BRCA2_001202 - PubMed: Bhaskaran 2019 - (refs 89, 90) - - Germline - 2/9001 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var184 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 2 Johan den Dunnen
+/. - c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic (dominant) g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 4 families with BRCA1/BRCA2 variant carriers F - France - - - - - 4 Johan den Dunnen
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown - pathogenic (dominant) g.32912339_32912340del g.32338202_32338203del 3846_3847delTG - BRCA2_001202 - Journal: Gao 2020 as reported in: Wei 2017, PubMed: Shi 2017, Journal: Shi 2017, PubMed: Sun 2017, Journal: Sun 2017 - - Germline - 3 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: Wei 2017, PubMed: Shi 2017, Journal: Shi 2017, PubMed: Sun 2017, Journal: Sun 2017 breast/ovarian cancer families/patients - - China - - - - - 3 Xianqi Gao
+/. - c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown - pathogenic g.32912339_32912340del g.32338202_32338203del NM_000059.3:c.3846_3847delTG, p.Val1283Lysfs*2 - BRCA2_001202 found with two somatic TSC2 variants c.849-1G>A and c.1444-1G>A PubMed: Wu 2019 - - Germline ? - - - - DNA SEQ, SEQ-NG-I Blood 23 renal cancer predisposition genes screened, variant confirmed by Sanger SEQ RCC - PubMed: Wu 2019 no family history of renal tumours; patient alive and no recurrence at last examination F ? China - - - - - 1 Rosemary Ekong
+/. 11 c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - pathogenic (dominant) g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 - PubMed: Santonocito 2020 - rs80359405 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - NA g.32912339_32912340del - chr13_32912337_CTG_C - BRCA2_001202 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 - 19/60466 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 - 19 BRIDGES consortium
?/. - c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - NA g.32912339_32912340del - chr13_32912337_CTG_C - BRCA2_001202 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 - 4/53461 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 - 4 BRIDGES consortium
?/. - c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Parent #1 - VUS g.32912339_32912340del g.32338202_32338203del 3846_3847del - BRCA2_001202 classified as class 3, 4 or 5 in 48/12850 targeted tests and 25/25800 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 - 73 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 73 UK Variant Sharing Initiative
+/. 11 c.3847_3848del r.(?) p.(Val1283LysfsTer2) - Unknown - pathogenic (dominant) g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 135 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.3847_3848del r.(?) p.(Val1283LysfsTer2) - Unknown - pathogenic (dominant) g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 174 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.3847_3848del r.(?) p.(Val1283LysfsTer2) - Unknown - pathogenic (dominant) g.32912339_32912340del g.32338202_32338203del 3847_3848delGT - BRCA2_001202 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 233 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+?/. - c.3847_3848del r.(?) p.(Val1283Lysfs*2) - Unknown ACMG pathogenic (!) g.32912339_32912340del g.32338202_32338203del - - BRCA2_001202 Not yet with BRCA2 related neoplasm ACMG: PVS1, PS4_MOD, PM2_SUP 1) This variant has been reported in several individuals and families affected with breast, ovarian, and prostate cancer (PMID: 8589730, 21324516, 23199084, 21952622). 2) It was also shown to segregate with disease in a family with colorectal and other cancers (PMID: 24814045). 3) This variant is also known as 4075delGT in the literature. 4) Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). 5) reviewed by the ENIGMA expert panel and classified as pathogenic PMID: 8589730, 21324516, 23199084, 21952622, 24814045, 20104584 - - Germline - - - - - DNA SEQ-NG-I Blood WES BROVCA2 189731 - - F - Germany - - - - - 1 Andreas Laner
+/. - c.3847_3848del r.(?) p.(Val1283LysfsTer2) - Unknown - pathogenic g.32912339_32912340del - BRCA2(NM_000059.3):c.3847_3848del (p.(Val1283Lysfs*2)), BRCA2(NM_000059.3):c.3847_3848delGT (p.V1283Kfs*2), BRCA2(NM_000059.3):c.3847_3848delGT (p...) - BRCA2_001202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3847_3848del r.(?) p.(Val1283LysfsTer2) - Unknown - pathogenic g.32912339_32912340del - BRCA2(NM_000059.3):c.3847_3848del (p.(Val1283Lysfs*2)), BRCA2(NM_000059.3):c.3847_3848delGT (p.V1283Kfs*2), BRCA2(NM_000059.3):c.3847_3848delGT (p...) - BRCA2_001202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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