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.

49 entries on 1 page. Showing entries 1 - 49.
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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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 2i c.68-7T>A r.(?) p.(=) - Unknown - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 2i c.68-7T>A r.(?) p.(=) - Unknown - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 2i c.68-7T>A r.(?) p.(=) - Unknown - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 2i c.68-7T>A r.(?) p.(=) - Unknown - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 2i c.68-7T>A r.(?) p.(=) - Unknown - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 2i c.68-7T>A r.(?) p.(=) - Unknown - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/- 2i c.68-7T>A r.(=) p.(=) - Unknown - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs81002830 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/? 2i c.68-7T>A r.(=) p.(=) - Parent #1 - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
?/? 2i c.68-7T>A r.(=) p.(=) - Parent #1 - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/? 2i c.68-7T>A r.(=) p.(=) - Parent #1 - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/? 2i c.68-7T>A r.(=) p.(=) - Parent #1 - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/? 2i c.68-7T>A r.(=) p.(=) - Parent #1 - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/? 2i c.68-7T>A r.(=) p.(=) - Parent #1 - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 2i c.68-7T>A r.= ? - Unknown - NA g.32893207T>A g.32319070T>A c.68-7T>A - BRCA2_000013 splicing reporter minigene/patient RNA analysis; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.68-7T>A r.= ? - Unknown - NA g.32893207T>A g.32319070T>A IVS2-7T>A - BRCA2_000013 cDNA analysis; as variant control PubMed: Vreeswijk 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.68-7T>A r.(=) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - shared by Quest Diagnostics - rs81002830 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/? 2i c.68-7T>A r.(=) p.(=) - Unknown kConFab VUS g.32893207T>A g.32319070T>A BRCA2 IVS 2-7 T>A - BRCA2_000013 - kConFab variant classification: UV - - Germline - 6/1658 - - - DNA SEQ - - cancer, breast - - 6 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 6 kConFab - Heather Thorne
?/. 2i c.68-7T>A r.(?) p.(=) - Parent #1 - VUS g.32893207T>A g.32319070T>A IVS2-7T>A - BRCA2_000013 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 6 families (BRCA1/2 screening) - - Greece - - - - - 6 Florentia Fostira
?/. 2i c.68-7T>A r.(?) p.(=) - Unknown - VUS g.32893207T>A g.32319070T>A IVS2-7T>A - BRCA2_000013 - - - rs81002830 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR0513 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1420 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR2048 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR2092 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR0395 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0936 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR0995 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1033 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1354 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR1452 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 11/1900 cases - - - DNA SEQ - - cancer, breast BR2097 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.= p.= - Parent #1 - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - PubMed: Santos 2014 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - BROVCA 24607278-Fam PubMed: Santos 2014 3 families F - Portugal - - - - - 3 Johan den Dunnen
-/. - c.68-7T>A r.(=) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A BRCA2(NM_000059.3):c.68-7T>A (p.(=)), BRCA2(NM_000059.4):c.68-7T>A - BRCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - 12/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. 2i c.68-7T>A r.(?) p.(=) - Unknown - likely benign g.32893207T>A g.32319070T>A 68-7A>T - BRCA2_000013 - PubMed: Stegel 2011 - - Germline - 1/208 cases - - - DNA SEQ - - BROVCA - PubMed: Stegel 2011 cases F - Slovenia - - - - - 1 Johan den Dunnen
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 2i c.68-7T>A r.(?) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - - - rs81002830 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.68-7T>A r.(=) p.(=) - Unknown - VUS g.32893207T>A g.32319070T>A BRCA2(NM_000059.3):c.68-7T>A (p.(=)), BRCA2(NM_000059.4):c.68-7T>A - BRCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-7T>A r.(=) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A BRCA2(NM_000059.3):c.68-7T>A (p.(=)), BRCA2(NM_000059.4):c.68-7T>A - BRCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-7T>A r.(=) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A BRCA2(NM_000059.3):c.68-7T>A (p.(=)), BRCA2(NM_000059.4):c.68-7T>A - BRCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-7T>A r.(=) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A BRCA2(NM_000059.3):c.68-7T>A (p.(=)), BRCA2(NM_000059.4):c.68-7T>A - BRCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-7T>A r.(=) p.(=) - Unknown - benign g.32893207T>A g.32319070T>A BRCA2(NM_000059.3):c.68-7T>A (p.(=)), BRCA2(NM_000059.4):c.68-7T>A - BRCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68-7T>A r.(?) p.(=) - Parent #1 - VUS g.32893207T>A g.32319070T>A - - BRCA2_000013 classified as class 1, 2, 3, 4 or 5 in 7/12850 targeted tests and 55/25800 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 - 62 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 62 UK Variant Sharing Initiative
-/. - c.68-7T>A r.(?) p.? - Parent #1 - benign g.32893207T>A g.32319070T>A - - BRCA2_000013 - PubMed: Dong 2021 - rs81002830 Germline - 3/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 3F F - China - - - - - 3 Johan den Dunnen
?/. 2i c.68-7T>A r.? p.? - Unknown ACMG benign g.32893207T>A - c.68-7T>A - BRCA2_000013 classification based on multiple evidence types incl. bioinformatics, RNA analysis, mini-gene splicing assays, clinical data, etc. PubMed: Thomassen 2022 - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-7T>A r.(=) p.(=) - Unknown - benign g.32893207T>A - BRCA2(NM_000059.3):c.68-7T>A (p.(=)), BRCA2(NM_000059.4):c.68-7T>A - BRCA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.68-7T>A r.(?) p.(?) - Unknown - benign g.32893207T>A - - - BRCA2_000013 - - - rs81002830 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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