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.

36 entries on 1 page. Showing entries 1 - 36.
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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     

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Panel size     

Owner     
+/+ 11 c.3865_3868del r.(?) p.(Lys1289fs) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3865_3868del r.(?) p.(Lys1289fs) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3865_3868del r.(?) p.(Lys1289fs) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del 3865_3868del4 - BRCA2_001167 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3865_3868del r.(?) p.(Lys1289fs) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del 3865_3868delAAAT - BRCA2_001167 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.3865_3868del r.(?) p.(Lys1289fs) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3865_3868del r.(?) p.(Lys1289fs) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.3865_3868del r.(?) p.(K1289Afs*2) FA FANCD1_00039 Parent #2 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 Patient sample not available; mutation identified from parental sample. Auerbach Lab - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del 3865_3868delAAAT - BRCA2_001167 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
+/+ 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic (dominant) g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del 3865_3868del4 - BRCA2_001167 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Nienke van der Stoep
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. - c.3865_3868del r.(?) p.(Lys1289AlafsTer3) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del BRCA2(NM_000059.3):c.3865_3868delAAAT (p.K1289Afs*3), BRCA2(NM_000059.3):c.3865_3868delAAAT (p.Lys1289Alafs*3), BRCA2(NM_000059.4):c.3865_3868delAA... - BRCA2_001167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3865_3868del r.(?) p.(Lys1289AlafsTer3) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del BRCA2(NM_000059.3):c.3865_3868delAAAT (p.K1289Afs*3), BRCA2(NM_000059.3):c.3865_3868delAAAT (p.Lys1289Alafs*3), BRCA2(NM_000059.4):c.3865_3868delAA... - BRCA2_001167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France unknown - - - - 1 Johan den Dunnen
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - 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
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - 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
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Malaysia Asian - - - - 1 Johan den Dunnen
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - South Africa white - - - - 1 Johan den Dunnen
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States white - - - - 1 Johan den Dunnen
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic g.32912357_32912360del g.32338220_32338223del - - BRCA2_001167 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States Hispanic - - - - 3 Johan den Dunnen
+/. 11 c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del 4093del4 - BRCA2_001167 - Laitman, submitted - rs80359412 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Greece - - - - - 1 Eitan Friedman
+/. - c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Unknown - pathogenic g.32912357_32912360del g.32338220_32338223del 3865_3868delAAAT - BRCA2_001167 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - pathogenic (dominant) g.32912357_32912360del g.32338220_32338223del 3865_3868delAAAT - BRCA2_001167 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
?/. - c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - NA g.32912357_32912360del - chr13_32912353_TAATA_T - BRCA2_001167 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 - 1/60466 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 - 1 BRIDGES consortium
?/. - c.3865_3868del r.(?) p.(Lys1289Alafs*3) - Parent #1 - NA g.32912357_32912360del - chr13_32912353_TAATA_T - BRCA2_001167 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
+/. 11 c.3865_3868del r.(?) p.(Lys1289AlafsTer3) - Unknown - pathogenic (dominant) g.32912357_32912360del g.32338220_32338223del 3865_3868delAAAT - BRCA2_001167 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 275 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. - c.3865_3868del r.(?) p.(Lys1289AlafsTer3) - Unknown - pathogenic g.32912357_32912360del - BRCA2(NM_000059.3):c.3865_3868delAAAT (p.K1289Afs*3), BRCA2(NM_000059.3):c.3865_3868delAAAT (p.Lys1289Alafs*3), BRCA2(NM_000059.4):c.3865_3868delAA... - BRCA2_001167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3865_3868del r.(?) p.(Lys1289AlafsTer3) - Unknown - pathogenic g.32912357_32912360del - BRCA2(NM_000059.3):c.3865_3868delAAAT (p.K1289Afs*3), BRCA2(NM_000059.3):c.3865_3868delAAAT (p.Lys1289Alafs*3), BRCA2(NM_000059.4):c.3865_3868delAA... - BRCA2_001167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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