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.

15 entries on 1 page. Showing entries 1 - 15.
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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     
+/+ 3 c.289G>T r.(?) p.(Glu97*) - Parent #1 - pathogenic g.32893435G>T g.32319298G>T - - BRCA2_002051 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 3 c.289G>T r.(?) p.(Glu97*) - Parent #1 - pathogenic (dominant) g.32893435G>T g.32319298G>T - - BRCA2_002051 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.289G>T r.(?) p.(Glu97*) - Unknown - pathogenic g.32893435G>T g.32319298G>T - - BRCA2_002051 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. - c.289G>T r.(?) p.(Glu97Ter) - Unknown - pathogenic g.32893435G>T g.32319298G>T BRCA2(NM_000059.3):c.289G>T (p.E97*) - BRCA2_002051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.289G>T r.(?) p.(Glu97*) - Parent #1 - pathogenic g.32893435G>T g.32319298G>T - - BRCA2_002051 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France unknown - - - - 2 Johan den Dunnen
+/. 3 c.289G>T r.(?) p.(Glu97*) - Parent #1 - pathogenic g.32893435G>T g.32319298G>T - - BRCA2_002051 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France white - - - - 3 Johan den Dunnen
+/. 3 c.289G>T r.(?) p.(Glu97*) - Parent #1 - pathogenic g.32893435G>T g.32319298G>T - - BRCA2_002051 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 9 families F - Italy white - - - - 9 Johan den Dunnen
+/. 3 c.289G>T r.(?) p.(Glu97*) - Parent #1 - pathogenic g.32893435G>T g.32319298G>T - - BRCA2_002051 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Korea Asian - - - - 1 Johan den Dunnen
+/. 3 c.289G>T r.(?) p.(Glu97*) - Parent #1 - pathogenic g.32893435G>T g.32319298G>T - - BRCA2_002051 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 3 c.289G>T r.(?) p.(Glu97*) - Parent #1 - pathogenic g.32893435G>T g.32319298G>T - - BRCA2_002051 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 3 c.289G>T r.(?) p.(Glu97*) - Parent #1 - pathogenic g.32893435G>T g.32319298G>T - - BRCA2_002051 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs397507646 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.289G>T r.(?) p.(Glu97*) - Parent #1 - pathogenic (dominant) g.32893435G>T g.32319298G>T - - BRCA2_002051 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 3 families with BRCA1/BRCA2 variant carriers F - France - - - - - 3 Johan den Dunnen
+/. 3 c.289G>T r.(?) p.(Glu97*) - Unknown - pathogenic (dominant) g.32893435G>T g.32319298G>T - - BRCA2_002051 - Benani Mechita 2020, submitted - - Germline - - - - - DNA SEQ-NG-IT - - BROVCA2 ID5 Benani Mechita 2020, submitted - F - Morocco - - - - - 1 Mohcine Bennani
+/. 3 c.289G>T r.(?) p.(Glu97*) - Parent #1 - pathogenic (dominant) g.32893435G>T g.32319298G>T - - BRCA2_002051 - PubMed: Santonocito 2020 - - 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
?/. - c.289G>T r.(?) p.(Glu97*) - Parent #1 - NA g.32893435G>T - chr13_32893435_G_T - BRCA2_002051 not in 53461 controls; 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 - 2/60466 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 - 2 BRIDGES consortium
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