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.

24 entries on 1 page. Showing entries 1 - 24.
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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     

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VIP     

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Panel size     

Owner     
+/+ 11 c.5130_5133del r.(?) p.(Tyr1710*) - Unknown - pathogenic g.32913622_32913625del g.32339485_32339488del 5130_5133del4 - BRCA2_001903 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del - - BRCA2_001903 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del 5130_5133delTGTA - BRCA2_001903 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del 5130_5133delTGTA - BRCA2_001903 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del 5130_5133delTGTA - BRCA2_001903 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.5130_5133del r.(?) p.(Tyr1710*) - Unknown kConFab pathogenic g.32913622_32913625del g.32339485_32339488del BRCA2 5358_5361 del 4 (STOP 1710) - BRCA2_001903 - 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.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic (dominant) g.32913622_32913625del g.32339485_32339488del - - BRCA2_001903 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5130_5133del r.(?) p.(Tyr1710*fs) - Unknown - pathogenic g.32913622_32913625del g.32339485_32339488del 5130_5133delTGTA - BRCA2_001903 - - - rs80359484 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1117 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.5130_5133del r.(?) p.(Tyr1710*) - Unknown - pathogenic g.32913622_32913625del g.32339485_32339488del 5130_5133delTGTA - BRCA2_001903 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - - - DNA SEQ-NG - - BROVCA 29176636-Pat PubMed: Arai 2018, Journal: Arai 2018 analysis 860 breast/ovarian cancer pedigrees - - Japan - - - - - 1 Johan den Dunnen
+/. 11 c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del - - BRCA2_001903 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil white - - - - 1 Johan den Dunnen
+/. 11 c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del - - BRCA2_001903 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - Denmark white - - - - 6 Johan den Dunnen
+/. 11 c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del - - BRCA2_001903 - 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
+/. 11 c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del - - BRCA2_001903 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Nigeria unknown - - - - 1 Johan den Dunnen
+/. 11 c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del - - BRCA2_001903 - 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.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del - - BRCA2_001903 - 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.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del - - BRCA2_001903 - 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.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del - - BRCA2_001903 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States white - - - - 3 Johan den Dunnen
+/. - c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - pathogenic g.32913622_32913625del g.32339485_32339488del 5130_5133delTGTA - BRCA2_001903 - PubMed: Bhaskaran 2019 - (refs 79, 87) - rs80359485 Germline - 3/2991 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var230 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 3 Johan den Dunnen
+/. 11 c.5130_5133del r.(?) p.(Tyr1710*) - Unknown - pathogenic (dominant) g.32913622_32913625del g.32339485_32339488del 5129_5132delATGT - BRCA2_001903 - Journal: Gao 2020 as reported in: PubMed: Lang 2017, Journal: Lang 2017, PubMed: Lang 2017, Journal: Lang 2017 - - Germline - 2 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Lang 2017, Journal: Lang 2017, PubMed: Lang 2017, Journal: Lang 2017 breast/ovarian cancer families/patients - - China - - - - - 2 Xianqi Gao
?/. - c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - VUS g.32913622_32913625del g.32339485_32339488del - - BRCA2_001903 classified as class 3, 4 or 5 in 5/12850 targeted tests and 5/25800 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 - 10 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 10 UK Variant Sharing Initiative
?/. - c.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - NA g.32913622_32913625del - chr13_32913619_TTATG_T - BRCA2_001903 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.5130_5133del r.(?) p.(Tyr1710*) - Parent #1 - NA g.32913622_32913625del - chr13_32913619_TTATG_T - BRCA2_001903 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.5130_5133del r.(?) p.(Tyr1710*) - Unknown - pathogenic g.32913622_32913625del - BRCA2(NM_000059.3):c.5130_5133delTGTA (p.Y1710*), BRCA2(NM_000059.4):c.5130_5133delTGTA (p.Y1710*) - BRCA2_001903 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5130_5133del r.(?) p.(Tyr1710*) - Unknown - pathogenic g.32913622_32913625del - BRCA2(NM_000059.3):c.5130_5133delTGTA (p.Y1710*), BRCA2(NM_000059.4):c.5130_5133delTGTA (p.Y1710*) - BRCA2_001903 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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