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.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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Owner     
?/? 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
-/. 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - benign g.32911418_32911419delinsAT g.32337281_32337282delinsAT 2926_2927delTCinsAT - BRCA2_001392 - shared by Quest Diagnostics - rs276174831 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/. 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Parent #1 - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT 3154TC>AT - BRCA2_001392 - PubMed: Briceno-Balcazar 2017 - - Germline - - - - - DNA SEQ blood - cancer, breast 29021639-Pat? PubMed: Briceno-Balcazar 2017 analysis 256 breast cancer cases - - Colombia - - - - - 1 Johan den Dunnen
?/. 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
?/. - c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT BRCA2(NM_000059.3):c.2926_2927delTCinsAT (p.S976I), BRCA2(NM_000059.4):c.2926_2927delTCinsAT (p.S976I), BRCA2(NM_000059.4):c.2926_2928delTCCinsATC ... - BRCA2_001392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - benign g.32911418_32911419delinsAT - BRCA2(NM_000059.3):c.2926_2927delTCinsAT (p.S976I), BRCA2(NM_000059.4):c.2926_2927delTCinsAT (p.S976I), BRCA2(NM_000059.4):c.2926_2928delTCCinsATC ... - BRCA2_001392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Unknown - likely benign g.32911418_32911419delinsAT - BRCA2(NM_000059.3):c.2926_2927delTCinsAT (p.S976I), BRCA2(NM_000059.4):c.2926_2927delTCinsAT (p.S976I), BRCA2(NM_000059.4):c.2926_2928delTCCinsATC ... - BRCA2_001392 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2926_2927delinsAT r.(?) p.(Ser976Ile) - Parent #1 - VUS g.32911418_32911419delinsAT g.32337281_32337282delinsAT - - BRCA2_001392 classified as class 3, 4 or 5 in 1/12850 targeted tests and 1/25800 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 - 2 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 2 UK Variant Sharing Initiative
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