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.

21 entries on 1 page. Showing entries 1 - 21.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 27 c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 27 c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 - - - rs56121817 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1267 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 27 c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 - - - rs56121817 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0349 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/? 27 c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 27 c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
?/. - c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - VUS g.32972525C>T g.32398388C>T BRCA2(NM_000059.3):c.9875C>T (p.P3292L), BRCA2(NM_000059.4):c.9875C>T (p.P3292L) - BRCA2_001616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 27 c.9875C>T r.(?) p.(Pro3292Leu) - Parent #1 - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs56121817 Germline - 2/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 2 Yukihide Momozawa
?/. 27 c.9875C>T r.(?) p.(Pro3292Leu) - Parent #1 - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs56121817 Germline - 2/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 2 Yukihide Momozawa
?/. 27 c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 - PubMed: Abulkhair 2018 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Abulkhair 2018 cases F - Saudi Arabia Arab - - - - 3 Johan den Dunnen
?/. 27 c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 - Journal: Gao 2020 as reported in: PubMed: Chao 2016, Journal: Chao 2016 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Chao 2016, Journal: Chao 2016 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. - c.9875C>T r.(?) p.(Pro3292Leu) - Parent #1 - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 classified as class 3, 4 or 5 in 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 - 1 case - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 1 UK Variant Sharing Initiative
?/. - c.9875C>T r.(?) p.(Pro3292Leu) - Parent #1 - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs56121817 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - likely benign g.32972525C>T - BRCA2(NM_000059.3):c.9875C>T (p.P3292L), BRCA2(NM_000059.4):c.9875C>T (p.P3292L) - BRCA2_001616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9875C>T r.(?) p.(Pro3292Leu) - Parent #1 - NA g.32972525C>T - chr13_32972525_C_T - BRCA2_001616 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 - 6/60466 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 - 6 BRIDGES consortium
?/. - c.9875C>T r.(?) p.(Pro3292Leu) - Parent #1 - NA g.32972525C>T - chr13_32972525_C_T - BRCA2_001616 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 - 8/53461 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 - 8 BRIDGES consortium
?/. - c.9875C>T r.(?) p.(Pro3292Leu) - Parent #1 - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 - PubMed: Dong 2021 - rs56121817 Germline - 1/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1F F - China - - - - - 1 Johan den Dunnen
-/. - c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - benign g.32972525C>T - BRCA2(NM_000059.3):c.9875C>T (p.P3292L), BRCA2(NM_000059.4):c.9875C>T (p.P3292L) - BRCA2_001616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - benign g.32972525C>T - BRCA2(NM_000059.3):c.9875C>T (p.P3292L), BRCA2(NM_000059.4):c.9875C>T (p.P3292L) - BRCA2_001616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 27 c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - benign g.32972525C>T g.32398388C>T - - BRCA2_001616 - PubMed: Oosthuizen 2021 - rs56121817 Germline - 0.008 - - - DNA SEQ - - BROVCA SNP35 PubMed: Oosthuizen 2021 - - - South Africa - - - - - 1 Johan den Dunnen
?/. - c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - VUS g.32972525C>T g.32398388C>T - - BRCA2_001616 - PubMed: Combrink 2021 - rs56121817 Germline - - - - - DNA SEQ - - BROVCA patient PubMed: Combrink 2021 1 patient F - South Africa India - - - - 1 Johan den Dunnen
?/. - c.9875C>T r.(?) p.(Pro3292Leu) - Unknown - VUS g.32972525C>T - BRCA2(NM_000059.3):c.9875C>T (p.P3292L), BRCA2(NM_000059.4):c.9875C>T (p.P3292L) - BRCA2_001616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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