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.

39 entries on 1 page. Showing entries 1 - 39.
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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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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

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Owner     
?/? 11 c.3516G>A r.(?) p.(=) - Unknown - VUS g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.3516G>A r.(?) p.(=) - Unknown - VUS g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.3516G>A r.(?) p.(Ser1172Serof(p.(=) - Unknown - VUS g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 11 c.3516G>A r.(?) p.(Ser1172Ser) - Unknown - VUS g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
-/- 11 c.3516G>A r.(=) p.(=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1799952 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/? 11 c.3516G>A r.(=) p.(=) - Parent #1 - VUS g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
?/? 11 c.3516G>A r.(=) p.(=) - Parent #1 - VUS g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/. 11 c.3516G>A r.(=) p.(=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - shared by Quest Diagnostics - rs1799952 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/? 11 c.3516G>A r.(=) p.(=) - Unknown kConFab likely pathogenic g.32912008G>A g.32337871G>A BRCA2 3744 G>A (S1172S) - BRCA2_001317 - kConFab variant classification: SV - - Germline - 5/1658 - - - DNA SEQ - - cancer, breast - - 5 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 5 kConFab - Heather Thorne
?/. 11 c.3516G>A r.(?) p.(=) - Parent #1 - VUS g.32912008G>A g.32337871G>A 3744G>A-Ser1172Ser (S1172S) - BRCA2_001317 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 10 families (BRCA1/2 screening) - - Greece - - - - - 10 Florentia Fostira
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0624 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1441 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR2118 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0481 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0527 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR2140 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0501 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1275 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1279 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1416 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1482 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
-/. - c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A BRCA2(NM_000059.3):c.3516G>A (p.S1172=, p.(Ser1172=)), BRCA2(NM_000059.4):c.3516G>A (p.S1172=) - BRCA2_001317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3516G>A r.(?) p.(Ser1172=) - Unknown - likely benign g.32912008G>A g.32337871G>A BRCA2(NM_000059.3):c.3516G>A (p.S1172=, p.(Ser1172=)), BRCA2(NM_000059.4):c.3516G>A (p.S1172=) - BRCA2_001317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A BRCA2(NM_000059.3):c.3516G>A (p.S1172=, p.(Ser1172=)), BRCA2(NM_000059.4):c.3516G>A (p.S1172=) - BRCA2_001317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A BRCA2(NM_000059.3):c.3516G>A (p.S1172=, p.(Ser1172=)), BRCA2(NM_000059.4):c.3516G>A (p.S1172=) - BRCA2_001317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A BRCA2(NM_000059.3):c.3516G>A (p.S1172=, p.(Ser1172=)), BRCA2(NM_000059.4):c.3516G>A (p.S1172=) - BRCA2_001317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 9/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - 9/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.3516G>A r.(?) p.(=) - Parent #1 - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1799952 Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
-?/. 11 c.3516G>A r.(?) p.(=) - Unknown - likely benign g.32912008G>A g.32337871G>A 3516G>A - BRCA2_001317 - PubMed: Levant 2012 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Levant 2012 cases F - Croatia (Hrvatska) - - - - - 1 Johan den Dunnen
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - - - rs1799952 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. - c.3516G>A r.(?) p.(Ser1172=) - Unknown - likely benign g.32912008G>A g.32337871G>A BRCA2(NM_000059.3):c.3516G>A (p.S1172=, p.(Ser1172=)), BRCA2(NM_000059.4):c.3516G>A (p.S1172=) - BRCA2_001317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3516G>A r.(?) p.(=) - Parent #1 - VUS g.32912008G>A g.32337871G>A - - BRCA2_001317 classified as class 1, 2, 3, 4 or 5 in 25/25800 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 - 25 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 25 UK Variant Sharing Initiative
-/. - c.3516G>A r.(?) p.(Ser1172=) - Parent #1 - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - PubMed: Dong 2021 - rs1799952 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
-/. - c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A - BRCA2(NM_000059.3):c.3516G>A (p.S1172=, p.(Ser1172=)), BRCA2(NM_000059.4):c.3516G>A (p.S1172=) - BRCA2_001317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - Nodo Argentina Varioma, unpublished - rs1799952 Germline - - - - - DNA SEQ - - BROVCA BR3029 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3516G>A r.(?) p.(Ser1172=) - Unknown - benign g.32912008G>A g.32337871G>A - - BRCA2_001317 - Nodo Argentina Varioma, unpublished - rs1799952 Germline - - - - - DNA SEQ - - BROVCA BR3214 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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