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.

28 entries on 1 page. Showing entries 1 - 28.
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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     

Origin     

Segregation     

Frequency     

Re-site     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Owner     
+/+ 3 c.145G>T r.(?) p.(Glu49*) - Unknown - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 3 c.145G>T r.(?) p.(Glu49*) - Unknown - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 3 c.145G>T r.(?) p.(Glu49*) - Unknown - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 3 c.145G>T r.(?) p.(Glu49*) - Unknown - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 3 c.145G>T r.(?) p.(Glu49*) - Unknown - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/. 3 c.145G>T r.68_316del p.[Asp23_Leu105del, Glu49*] - Unknown - NA g.32893291G>T g.32319154G>T - - BRCA2_000017 ESEfinder/ESRsearch, hybrid minigenes; ESE disruption, skipping of exon 3 is almost total, but a small fraction of mRNA species with r.145g>u change is present PubMed: Sanz 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.145G>T r.(?) p.Glu49* - Unknown - NA g.32893291G>T g.32319154G>T E49X - BRCA2_000017 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.145G>T r.(?) p.(Glu49*) - Unknown - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P14-5825 - 1 Arjen Mensenkamp
+/+ 3 c.145G>T r.(?) p.(Glu49*) - Parent #1 - pathogenic (dominant) g.32893291G>T g.32319154G>T - - BRCA2_000017 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.145G>T r.(?) p.(Glu49Ter) - Unknown - pathogenic g.32893291G>T g.32319154G>T BRCA2(NM_000059.3):c.145G>T (p.E49*), BRCA2(NM_000059.4):c.145G>T (p.E49*) - BRCA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.145G>T r.(?) p.(Glu49Ter) - Unknown - pathogenic g.32893291G>T g.32319154G>T BRCA2(NM_000059.3):c.145G>T (p.E49*), BRCA2(NM_000059.4):c.145G>T (p.E49*) - BRCA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.145G>T r.(?) p.(Glu49*) - Parent #1 - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 9 families F - Denmark white - - - - 9 Johan den Dunnen
+/. 3 c.145G>T r.(?) p.(Glu49*) - Parent #1 - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - 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.145G>T r.(?) p.(Glu49*) - Parent #1 - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - France unknown - - - - 5 Johan den Dunnen
+/. 3 c.145G>T r.(?) p.(Glu49*) - Parent #1 - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - Spain white - - - - 7 Johan den Dunnen
+/. 3 c.145G>T r.(?) p.(Glu49*) - Parent #1 - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Sweden unknown - - - - 1 Johan den Dunnen
+/. 3 c.145G>T r.(?) p.(Glu49*) - Parent #1 - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States unknown - - - - 2 Johan den Dunnen
+/. 3 c.145G>T r.(?) p.(Glu49*) - Parent #1 - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 11 families F - United States Hispanic - - - - 11 Johan den Dunnen
+/. 3 c.145G>T r.(?) p.(Glu49*) - Parent #1 - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 12 families F - United States white - - - - 12 Johan den Dunnen
+/. - c.145G>T r.(?) p.(Glu49*) - Parent #1 - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80358435 Germline - 1/53 cases - - - DNA SEQ - - cancer, breast -cases-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 53 male breast cancer cases M - Japan - - - - - 1 Yukihide Momozawa
+/. 3 c.145G>T r.(?) p.(Glu49*) - Unknown - pathogenic g.32893291G>T g.32319154G>T E49X - BRCA2_000017 - Laitman, submitted - rs80358435 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Iran - - - - - 1 Eitan Friedman
+/. 3 c.145G>T r.(?) p.(Glu49*) - Unknown - pathogenic g.32893291G>T g.32319154G>T - - BRCA2_000017 - PubMed: Schwartz 2019 - - Germline - - - - - DNA SEQ - - cancer - PubMed: Schwartz 2019 - - - - - - - - - 1 Mathias Schwartz
+/. - c.145G>T r.(?) p.(Glu49*) - Parent #1 - pathogenic (dominant) g.32893291G>T g.32319154G>T - - BRCA2_000017 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 3 families with BRCA1/BRCA2 variant carriers F - France - - - - - 3 Johan den Dunnen
?/. - c.145G>T r.(?) p.(Glu49*) - Parent #1 - VUS g.32893291G>T g.32319154G>T - - BRCA2_000017 classified as class 3, 4 or 5 in 1/12850 targeted tests and 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 - 2 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 2 UK Variant Sharing Initiative
?/. - c.145G>T r.(?) p.(Glu49*) - Parent #1 - NA g.32893291G>T - chr13_32893291_G_T - BRCA2_000017 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
+/. 3 c.145G>T r.(?) p.(Glu49Ter) - Unknown - pathogenic (dominant) g.32893291G>T g.32319154G>T 145G>T - BRCA2_000017 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 198 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 3 c.145G>T r.(?) p.(Glu49Ter) - Unknown - pathogenic (dominant) g.32893291G>T g.32319154G>T - - BRCA2_000017 - Nodo Argentina Varioma, unpublished - rs80358435 Germline - - - - - DNA SEQ - - BROVCA BR3107 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. - c.145G>T r.(?) p.(Glu49Ter) - Unknown - pathogenic g.32893291G>T - BRCA2(NM_000059.3):c.145G>T (p.E49*), BRCA2(NM_000059.4):c.145G>T (p.E49*) - BRCA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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