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.

53 entries on 1 page. Showing entries 1 - 53.
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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)     

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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     

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Panel size     

Owner     
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del 9132delC - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969fs) - Unknown - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del 8904delC - BRCA2_001079 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del 8904delC - BRCA2_001079 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del 8904delC - BRCA2_001079 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del 8904delC - BRCA2_001079 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del 8904delC - BRCA2_001079 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del 8904delC - BRCA2_001079 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del 9132delC (2968 Stop 2975) - BRCA2_001079 - - - - Unknown - - - - - DNA MCA, MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del 9132delC (2968 Stop 2975) - BRCA2_001079 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Unknown - pathogenic g.32953603del g.32379466del 8904delC - BRCA2_001079 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Unknown - pathogenic g.32953603del g.32379466del 8904delC - BRCA2_001079 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Unknown kConFab pathogenic g.32953603del g.32379466del BRCA2 9132 del C (STOP 2975) - BRCA2_001079 - kConFab variant classification: P - - Germline - 3/1658 - - - DNA SEQ - - cancer, breast - - 3 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 3 kConFab - Heather Thorne
+/+ 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic (dominant) g.32953603del g.32379466del - - BRCA2_001079 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8904del r.(?) p.(Val2969CysfsTer7) - Unknown - pathogenic g.32953603del g.32379466del BRCA2(NM_000059.3):c.8904delC (p.V2969Cfs*7), BRCA2(NM_000059.4):c.8904delC (p.V2969Cfs*7) - BRCA2_001079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Canada white - - - - 2 Johan den Dunnen
+/. 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Canada unknown - - - - 2 Johan den Dunnen
+/. 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - 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
+/. 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France unknown - - - - 2 Johan den Dunnen
+/. 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 16 families F - United Kingdom (Great Britain) white - - - - 16 Johan den Dunnen
+/. 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - 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
+/. 22 c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic g.32953603del g.32379466del - - BRCA2_001079 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 21 families F - United States white - - - - 21 Johan den Dunnen
+/. - c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - pathogenic (dominant) g.32953603del g.32379466del 8904delC - BRCA2_001079 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 3 families with BRCA1/BRCA2 variant carriers F - France - - - - - 3 Johan den Dunnen
?/. - c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - VUS g.32953603del g.32379466del - - BRCA2_001079 classified as class 3, 4 or 5 in 43/12850 targeted tests and 20/25800 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 - 63 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 63 UK Variant Sharing Initiative
?/. - c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - NA g.32953603del - chr13_32953601_AC_A - BRCA2_001079 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 - 6/60466 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 - 6 BRIDGES consortium
?/. - c.8904del r.(?) p.(Val2969Cysfs*7) - Parent #1 - NA g.32953603del - chr13_32953601_AC_A - BRCA2_001079 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 - 1/53461 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 - 1 BRIDGES consortium
+/. - c.8904del r.(?) p.(Val2969CysfsTer7) - Parent #1 ACMG pathogenic (dominant) g.32953603del g.32379466del - - BRCA2_001079 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat91 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.8904del r.(?) p.(Val2969CysfsTer7) - Unknown - pathogenic g.32953603del - BRCA2(NM_000059.3):c.8904delC (p.V2969Cfs*7), BRCA2(NM_000059.4):c.8904delC (p.V2969Cfs*7) - BRCA2_001079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.8904del r.(?) p.(Val2969CysfsTer7) - Unknown - pathogenic g.32953603del - BRCA2(NM_000059.3):c.8904delC (p.V2969Cfs*7), BRCA2(NM_000059.4):c.8904delC (p.V2969Cfs*7) - BRCA2_001079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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