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.

41 entries on 1 page. Showing entries 1 - 41.
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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     
?/? 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 11 c.6322C>T r.(?) p.(Arg2108Cys) - Parent #1 - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/? 11 c.6322C>T r.(?) p.(Arg2108Cys) - Parent #1 - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/? 11 c.6322C>T r.(?) p.(Arg2108Cys) - Parent #1 - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+?/. 11 c.6322C>T r.(?) p.Arg2108Cys - Unknown - NA g.32914814C>T g.32340677C>T R2108C - BRCA2_000508 HR assay, LOH assay; predicted pathogenic, no LOH PubMed: Balia 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - benign g.32914814C>T g.32340677C>T - - BRCA2_000508 - shared by Quest Diagnostics - rs55794205 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/? 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown kConFab VUS g.32914814C>T g.32340677C>T BRCA2 6550 C>T (R2108C) - BRCA2_000508 - kConFab variant classification: UV - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T R2108C - BRCA2_000508 - - - rs55794205 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - rs55794205 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0579 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, ovarian - - - - - Netherlands - - - - - 1 Rien Blok
?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Germline - - - - - DNA MIPsm, SEQ - - cancer, ovarian ? - - - - Netherlands - - - - - 1 Rien Blok
?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
-?/. - c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - likely benign g.32914814C>T g.32340677C>T BRCA2(NM_000059.3):c.6322C>T (p.R2108C, p.(Arg2108Cys)), BRCA2(NM_000059.4):c.6322C>T (p.R2108C) - BRCA2_000508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - likely benign g.32914814C>T g.32340677C>T BRCA2(NM_000059.3):c.6322C>T (p.R2108C, p.(Arg2108Cys)), BRCA2(NM_000059.4):c.6322C>T (p.R2108C) - BRCA2_000508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - likely benign g.32914814C>T g.32340677C>T BRCA2(NM_000059.3):c.6322C>T (p.R2108C, p.(Arg2108Cys)), BRCA2(NM_000059.4):c.6322C>T (p.R2108C) - BRCA2_000508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - likely benign g.32914814C>T g.32340677C>T BRCA2(NM_000059.3):c.6322C>T (p.R2108C, p.(Arg2108Cys)), BRCA2(NM_000059.4):c.6322C>T (p.R2108C) - BRCA2_000508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Parent #1 - benign g.32914814C>T g.32340677C>T - - BRCA2_000508 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs55794205 Germline - 4/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 4 Yukihide Momozawa
-/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Parent #1 - benign g.32914814C>T g.32340677C>T - - BRCA2_000508 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs55794205 Germline - 7/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 7 Yukihide Momozawa
-/. - c.6322C>T r.(?) p.(Arg2108Cys) - Both (homozygous) - benign g.32914814C>T g.32340677C>T - - BRCA2_000508 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs55794205 Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
-/. - c.6322C>T r.(?) p.(Arg2108Cys) - Parent #1 - benign g.32914814C>T g.32340677C>T - - BRCA2_000508 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs55794205 Germline - 5/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 5 Yukihide Momozawa
?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - PubMed: Dodova 2015 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Dodova 2015 cases F - Bulgaria - - - - - 1 Johan den Dunnen
-/. - c.6322C>T r.(?) p.(Arg2108Cys) - Parent #1 - benign g.32914814C>T g.32340677C>T 6322C>T, 6322C>T, 6550C>T - BRCA2_000508 - PubMed: Bhaskaran 2019 - (refs 37, 41, 80, 88, 95, 96) - rs55794205 Germline - 10/1375 cases - - - DNA SEQ-NG, DHPLC - - cancer, breast BRCA1-var304 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 10 Johan den Dunnen
-?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - likely benign g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - rs55794205 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - likely benign g.32914814C>T g.32340677C>T - - BRCA2_000508 - - - rs55794205 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - Journal: Gao 2020 as reported in: PubMed: Wu 2017, Journal: Wu 2017, Song Chen 2015, Zhang Li 2014, Jie Huang 2008 - - Germline - 4 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Wu 2017, Journal: Wu 2017, Song Chen 2015, Zhang Li 2014, Jie Huang 2008 breast/ovarian cancer families/patients - - China - - - - - 4 Xianqi Gao
?/. - c.6322C>T r.(?) p.(Arg2108Cys) - Parent #1 - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 classified as class 3, 4 or 5 in 7/25800 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 - 7 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 7 UK Variant Sharing Initiative
-?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 conflicting interpretation of pathogenicity Benani Mechita 2020, submitted - - Germline - - - - - DNA SEQ-NG-IT - - BROVCA2 ID6 Benani Mechita 2020, submitted - F - Morocco - - - - - 1 Mohcine Bennani
-/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Parent #1 - benign g.32914814C>T g.32340677C>T - - BRCA2_000508 - PubMed: Santonocito 2020 - rs55794205 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
-?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown IARC likely benign g.32914814C>T g.32340677C>T 6322C>T - BRCA2_000508 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
?/. - c.6322C>T r.(?) p.(Arg2108Cys) - Parent #1 - VUS g.32914814C>T g.32340677C>T - - BRCA2_000508 - PubMed: Dong 2021 - rs55794205 Germline - 63/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 51F/12M F;M - China - - - - - 63 Johan den Dunnen
-?/. - c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - likely benign g.32914814C>T - BRCA2(NM_000059.3):c.6322C>T (p.R2108C, p.(Arg2108Cys)), BRCA2(NM_000059.4):c.6322C>T (p.R2108C) - BRCA2_000508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 11 c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - likely benign g.32914814C>T g.32340677C>T - - BRCA2_000508 - Nodo Argentina Varioma, unpublished - rs55794205 Germline - - - - - DNA SEQ - - BROVCA BR3231 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - benign g.32914814C>T - BRCA2(NM_000059.3):c.6322C>T (p.R2108C, p.(Arg2108Cys)), BRCA2(NM_000059.4):c.6322C>T (p.R2108C) - BRCA2_000508 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6322C>T r.(?) p.(Arg2108Cys) - Unknown - benign g.32914814C>T - - - BRCA2_000508 - - - rs55794205 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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