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.

28 entries on 1 page. Showing entries 1 - 28.
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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     

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Methylation     

Template     

Technique     

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Remarks     

Disease     

ID_report     

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Owner     
+/? 11 c.3545_3546del r.(?) p.(Phe1182*) - Unknown - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 - - - - Germline - - - - - DNA SEQ-NG-I - - - - - - - - - - - - - - 1 Christopher Watson
+/+ 11 c.3545_3546del r.(?) p.(Phe1182*) - Unknown - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.3545_3546del r.(?) p.(Phe1182*) - Unknown - pathogenic g.32912037_32912038del g.32337900_32337901del 3545_3546delTT - BRCA2_001009 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.3545_3546del r.(?) p.(Phe1182*) - Unknown - pathogenic g.32912037_32912038del g.32337900_32337901del 3545_3546delTT - BRCA2_001009 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3545_3546del r.(?) p.(Phe1182*) - Unknown - pathogenic g.32912037_32912038del g.32337900_32337901del 3545_3546delTT - BRCA2_001009 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3545_3546del r.(?) p.(Phe1182*) - Unknown - pathogenic g.32912037_32912038del g.32337900_32337901del c.3545_3546delTT - BRCA2_001009 - Pölsler et al. 2015, submitted - - Germline - 1/238 patients - - - DNA SEQ Leukocytes - BROVCA2 - Pölsler 2015, submitted - F no (Austria) - - - - - 1 Raphael Johannes Morscher
+/. - c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 BIC - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+ 11 c.3545_3546del r.(?) p.(Phe1182*) - Unknown kConFab pathogenic g.32912037_32912038del g.32337900_32337901del BRCA2 3773 delTT (F1182X) - BRCA2_001009 - kConFab variant classification: P - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
+/+ 11 c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic (dominant) g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3545_3546del r.(?) p.(Phe1182*fs) - Unknown - pathogenic g.32912037_32912038del g.32337900_32337901del 3545_3546delTT - BRCA2_001009 - - - rs80359388 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR2055 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.3545_3546del r.(?) p.(Phe1182*fs) - Unknown - pathogenic g.32912037_32912038del g.32337900_32337901del 3545_3546delTT - BRCA2_001009 - - - rs80359388 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0558 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.3545_3546del r.(?) p.(Phe1182*) - Unknown - pathogenic g.32912037_32912038del g.32337900_32337901del delTT - BRCA2_001009 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Nienke van der Stoep
+/. 11 c.3545_3546del r.(?) p.(Phe1182*) - Unknown - pathogenic g.32912037_32912038del g.32337900_32337901del delTT - BRCA2_001009 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Nienke van der Stoep
+/. - c.3545_3546del r.(?) p.(Phe1182Ter) - Unknown - pathogenic g.32912037_32912038del g.32337900_32337901del BRCA2(NM_000059.3):c.3545_3546delTT (p.F1182*), BRCA2(NM_000059.3):c.3545_3546delTT (p.Phe1182*), BRCA2(NM_000059.4):c.3545_3546delTT (p.F1182*) - BRCA2_001009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Austria white - - - - 2 Johan den Dunnen
+/. 11 c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 - 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.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 - 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
+/. 11 c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France unknown - - - - 3 Johan den Dunnen
+/. 11 c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Germany unknown - - - - 5 Johan den Dunnen
+/. 11 c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 - 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
+/. 11 c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United Kingdom (Great Britain) white - - - - 4 Johan den Dunnen
+/. 11 c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 - 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
+/. 11 c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic g.32912037_32912038del g.32337900_32337901del - - BRCA2_001009 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United States white - - - - 4 Johan den Dunnen
+/. - c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - pathogenic (dominant) g.32912037_32912038del g.32337900_32337901del 3545_3546delTT - BRCA2_001009 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 6 families with BRCA1/BRCA2 variant carriers F - France - - - - - 6 Johan den Dunnen
?/. - c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - VUS g.32912037_32912038del g.32337900_32337901del 3544_3545del - BRCA2_001009 classified as class 3, 4 or 5 in 12/12850 targeted tests and 7/25800 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 - 19 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 19 UK Variant Sharing Initiative
+/. - c.3545_3546del r.(?) p.(Phe1182Ter) - Unknown - pathogenic g.32912037_32912038del - BRCA2(NM_000059.3):c.3545_3546delTT (p.F1182*), BRCA2(NM_000059.3):c.3545_3546delTT (p.Phe1182*), BRCA2(NM_000059.4):c.3545_3546delTT (p.F1182*) - BRCA2_001009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - NA g.32912037_32912038del - chr13_32912035_ATT_A - BRCA2_001009 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 - 3/60466 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 - 3 BRIDGES consortium
?/. - c.3545_3546del r.(?) p.(Phe1182*) - Parent #1 - NA g.32912037_32912038del - chr13_32912035_ATT_A - BRCA2_001009 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
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