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     
+/+ 5i c.476-2A>G r.spl? p.? - Parent #1 - pathogenic g.32900377A>G g.32326240A>G - - BRCA2_000031 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 5i c.476-2A>G r.spl? p.? - Parent #1 - pathogenic g.32900377A>G g.32326240A>G - - BRCA2_000031 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/. 5i c.476-2A>G r.spl? ? - Unknown - NA g.32900377A>G g.32326240A>G IVS5-2A>G - BRCA2_000031 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 5i c.476-2A>G r.spl p.? - Parent #1 - likely pathogenic (dominant) g.32900377A>G g.32326240A>G - - BRCA2_000031 Insufficient evidence to determine clinical significance. Variant allele produces r.476_516del AND full-length transcripts.,IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 5 based on posterior probability = 1 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Colombo 2013, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.476-2A>G r.spl p.? - Parent #1 - pathogenic g.32900377A>G g.32326240A>G - - BRCA2_000031 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Czech Republic white - - - - 1 Johan den Dunnen
+/. 5i c.476-2A>G r.spl p.? - Parent #1 - pathogenic g.32900377A>G g.32326240A>G - - BRCA2_000031 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Germany unknown - - - - 3 Johan den Dunnen
+/. 5i c.476-2A>G r.spl p.? - Parent #1 - pathogenic g.32900377A>G g.32326240A>G - - BRCA2_000031 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Italy white - - - - 1 Johan den Dunnen
+/. 5i c.476-2A>G r.spl p.? - Parent #1 - pathogenic g.32900377A>G g.32326240A>G - - BRCA2_000031 - 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
+/. 5i c.476-2A>G r.spl p.? - Parent #1 - pathogenic g.32900377A>G g.32326240A>G - - BRCA2_000031 - 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) unknown - - - - 1 Johan den Dunnen
+/. 5i c.476-2A>G r.spl p.? - Parent #1 - pathogenic g.32900377A>G g.32326240A>G - - BRCA2_000031 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States white - - - - 1 Johan den Dunnen
+/. - c.476-2A>G r.(?) p.? - Unknown ACMG pathogenic g.32900377A>G g.32326240A>G - - BRCA2_000031 ACMG grading: PP5,PS3,PVS1,PP1,PM2; BC at age 46y, aunt paternal side BC 35y, second aunt paternal side BC 45y; reported in Colombo 2013. PLoS 8: e57173; Lindor 2012. Hum Mutat 33: 8 - - rs81002853 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. 5i c.476-2A>G r.spl p.? - Unknown - pathogenic g.32900377A>G g.32326240A>G IVS5-2A>G - BRCA2_000031 - Laitman, submitted - rs81002853 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Italy - - - - - 2 Eitan Friedman
?/. - c.476-2A>G r.spl p.? - Parent #1 - VUS g.32900377A>G g.32326240A>G - - BRCA2_000031 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.476-2A>G r.spl? p.? - Parent #1 - pathogenic g.32900377A>G g.32326240A>G - - BRCA2_000031 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs81002853 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
?/. - c.476-2A>G r.spl? p.? - Parent #1 - NA g.32900377A>G - chr13_32900377_A_G - BRCA2_000031 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 - 1/60466 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 - 1 BRIDGES consortium
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