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.

19 entries on 1 page. Showing entries 1 - 19.
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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     

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Treatment     

Panel size     

Owner     
+/+ 3 c.262_263del r.(?) p.(Leu88fs) - Unknown - pathogenic g.32893408_32893409del g.32319271_32319272del - - BRCA2_001291 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 3 c.262_263del r.(?) p.(Leu88fs) - Unknown - pathogenic g.32893408_32893409del g.32319271_32319272del - - BRCA2_001291 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 3 c.262_263del r.(?) p.(Leu88Alafs*12) - Unknown kConFab pathogenic g.32893408_32893409del g.32319271_32319272del BRCA2 490_491 del CT (STOP 99) - BRCA2_001291 - kConFab variant classification: P - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
+/+ 3 c.262_263del r.(?) p.(Leu88Alafs*12) - Parent #1 - pathogenic (dominant) g.32893408_32893409del g.32319271_32319272del - - BRCA2_001291 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.262_263del r.(?) p.(Leu88Alafs*12) - Unknown - pathogenic g.32893408_32893409del g.32319271_32319272del 262_263delCT - BRCA2_001291 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. - c.262_263del r.(?) p.(Leu88AlafsTer12) - Unknown - pathogenic g.32893408_32893409del g.32319271_32319272del BRCA2(NM_000059.3):c.262_263delCT (p.L88Afs*12), BRCA2(NM_000059.4):c.262_263delCT (p.L88Afs*12) - BRCA2_001291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.262_263del r.(?) p.(Leu88AlafsTer12) - Unknown - pathogenic g.32893408_32893409del g.32319271_32319272del BRCA2(NM_000059.3):c.262_263delCT (p.L88Afs*12), BRCA2(NM_000059.4):c.262_263delCT (p.L88Afs*12) - BRCA2_001291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.262_263del r.(?) p.(Leu88Alafs*12) - Parent #1 - pathogenic g.32893408_32893409del g.32319271_32319272del - - BRCA2_001291 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hungary white - - - - 1 Johan den Dunnen
+/. 3 c.262_263del r.(?) p.(Leu88Alafs*12) - Parent #1 - pathogenic g.32893408_32893409del g.32319271_32319272del - - BRCA2_001291 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - Malaysia Asian - - - - 8 Johan den Dunnen
+/. 3 c.262_263del r.(?) p.(Leu88Alafs*12) - Parent #1 - pathogenic g.32893408_32893409del g.32319271_32319272del - - BRCA2_001291 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 12 families F - Spain white - - - - 12 Johan den Dunnen
+/. 3 c.262_263del r.(?) p.(Leu88Alafs*12) - Parent #1 - pathogenic g.32893408_32893409del g.32319271_32319272del - - BRCA2_001291 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States African American - - - - 1 Johan den Dunnen
+/. 3 c.262_263del r.(?) p.(Leu88Alafs*12) - Parent #1 - pathogenic g.32893408_32893409del g.32319271_32319272del - - BRCA2_001291 - 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
+/. - c.262_263del r.(?) p.(Leu88Alafs*12) - Parent #1 - pathogenic g.32893408_32893409del g.32319271_32319272del 260_261del - BRCA2_001291 - PubMed: Bhaskaran 2019 - (refs 90) - - Germline - 1/8085 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var15 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. - c.262_263del r.(?) p.(Leu88Alafs*12) - Parent #1 - pathogenic g.32893408_32893409del g.32319271_32319272del 262_263delCT, 490delCT - BRCA2_001291 - PubMed: Bhaskaran 2019 - (refs 41, 58, 62, 64, 74, 79, 80, 87) - rs276174825 Germline - 9/4536 cases - - - DNA SEQ-NG, SEQ - - cancer, breast BRCA1-var16 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 9 Johan den Dunnen
+/. - c.262_263del r.(?) p.(Leu88Alafs*12) - Parent #1 - pathogenic (dominant) g.32893408_32893409del g.32319271_32319272del 262_263delCT - BRCA2_001291 - 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.262_263del r.(?) p.(Leu88Alafs*12) - Parent #1 - NA g.32893408_32893409del - chr13_32893405_ACT_A - BRCA2_001291 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 - 2/60466 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 - 2 BRIDGES consortium
+/. 3 c.262_263del r.(?) p.(Leu88Alafs*12) - Unknown - pathogenic (dominant) g.32893408_32893409del g.32319271_32319272del 261_262delTC - BRCA2_001291 - Journal: Gao 2020 as reported in: PubMed: Zhang 2012, Journal: Zhang 2012, PubMed: Wang 2015, Journal: Wang 2015, PubMed: Sun 2017, Journal: Sun 2017, PubMed: Lang 2017, Journal: Lang 2017 - - Germline - 4 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Zhang 2012, Journal: Zhang 2012, PubMed: Wang 2015, Journal: Wang 2015, PubMed: Sun 2017, Journal: Sun 2017, PubMed: Lang 2017, Journal: Lang 2017 breast/ovarian cancer families/patients - - China - - - - - 4 Xianqi Gao
?/. - c.262_263del r.(?) p.(Leu88Alafs*12) - Parent #1 - NA g.32893408_32893409del - chr13_32893405_ACT_A - BRCA2_001291 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.262_263del r.(?) p.(Leu88AlafsTer12) - Unknown - pathogenic g.32893408_32893409del - BRCA2(NM_000059.3):c.262_263delCT (p.L88Afs*12), BRCA2(NM_000059.4):c.262_263delCT (p.L88Afs*12) - BRCA2_001291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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