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.

32 entries on 1 page. Showing entries 1 - 32.
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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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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Tissue     

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Disease     

ID_report     

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Owner     
-/- 11 c.2803G>A r.(=) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897716 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/? 11 c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - VUS g.32911295G>A g.32337158G>A - - BRCA2_000082 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
-/- 11 c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 11 c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 11 c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 11 c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 11 c.2803G>A r.(?) p.Asp935Asn - Unknown - NA g.32911295G>A g.32337158G>A D935N - BRCA2_000082 - PubMed: Edwards 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2803G>A r.(?) p.Asp935Asn - Unknown - NA g.32911295G>A g.32337158G>A D935N - BRCA2_000082 - PubMed: Salazar 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2803G>A r.(?) p.Asp935Asn - Unknown - NA g.32911295G>A g.32337158G>A D935N - BRCA2_000082 Multifactorial likelihood-ratio model; predicted neutral PubMed: Spurdle 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2803G>A r.(?) p.Asp935Asn - Unknown - NA g.32911295G>A g.32337158G>A D935N - BRCA2_000082 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - shared by Quest Diagnostics - rs28897716 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/. - c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 cDNA: biallelic expression - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 11 c.2803G>A r.(?) p.(Asp935Asn) - Unknown kConFab likely benign g.32911295G>A g.32337158G>A BRCA2 3031 G>A (D935N) - BRCA2_000082 - kConFab variant classification: LCS - - Germline - 4/1658 - - - DNA SEQ - - cancer, breast - - 4 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 4 kConFab - Heather Thorne
-?/- 11 c.2803G>A r.(?) p.(Asp935Asn) - Unknown - likely benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Argentina - - - - - 1 Roxana Cerretini
-/. 11 c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - benign g.32911295G>A g.32337158G>A c.2803 G>A (D935N) - BRCA2_000082 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 2 families (BRCA1/2 screening) - - Greece - - - - - 2 Florentia Fostira
-/. 11 c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - - - rs28897716 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1196 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - - - rs28897716 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1366 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - - - rs28897716 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR0567 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - - - rs28897716 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR0966 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A BRCA2(NM_000059.3):c.2803G>A (p.D935N, p.(Asp935Asn)), BRCA2(NM_000059.4):c.2803G>A (p.D935N) - BRCA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A BRCA2(NM_000059.3):c.2803G>A (p.D935N, p.(Asp935Asn)), BRCA2(NM_000059.4):c.2803G>A (p.D935N) - BRCA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A BRCA2(NM_000059.3):c.2803G>A (p.D935N, p.(Asp935Asn)), BRCA2(NM_000059.4):c.2803G>A (p.D935N) - BRCA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A BRCA2(NM_000059.3):c.2803G>A (p.D935N, p.(Asp935Asn)), BRCA2(NM_000059.4):c.2803G>A (p.D935N) - BRCA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A BRCA2(NM_000059.3):c.2803G>A (p.D935N, p.(Asp935Asn)), BRCA2(NM_000059.4):c.2803G>A (p.D935N) - BRCA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 not in 7051 cases breast cancer PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs28897716 Germline - 1/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1 Yukihide Momozawa
?/. - c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - VUS g.32911295G>A g.32337158G>A - - BRCA2_000082 classified as class 1, 2, 3, 4 or 5 in 4/25800 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 - 4 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 4 UK Variant Sharing Initiative
?/. - c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - NA g.32911295G>A - chr13_32911295_G_A - BRCA2_000082 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 - 125/60466 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 - 125 BRIDGES consortium
?/. - c.2803G>A r.(?) p.(Asp935Asn) - Parent #1 - NA g.32911295G>A - chr13_32911295_G_A - BRCA2_000082 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 - 89/53461 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 - 89 BRIDGES consortium
-?/. - c.2803G>A r.(?) p.(Asp935Asn) - Unknown - likely benign g.32911295G>A - BRCA2(NM_000059.3):c.2803G>A (p.D935N, p.(Asp935Asn)), BRCA2(NM_000059.4):c.2803G>A (p.D935N) - BRCA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A - BRCA2(NM_000059.3):c.2803G>A (p.D935N, p.(Asp935Asn)), BRCA2(NM_000059.4):c.2803G>A (p.D935N) - BRCA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2803G>A r.(?) p.(Asp935Asn) - Unknown - benign g.32911295G>A g.32337158G>A - - BRCA2_000082 - Nodo Argentina Varioma, unpublished - rs28897716 Germline - - - - - DNA SEQ - - BROVCA BR3408 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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