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.

19 entries on 1 page. Showing entries 1 - 19.
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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     

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Disease     

ID_report     

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Owner     
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Unknown ENIGMA pathogenic g.32953959_32953963del g.32379822_32379826del 9254delATCAT - BRCA2_000893 - - - rs80359741 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Unknown ENIGMA pathogenic g.32953959_32953963del g.32379822_32379826del 9254delATCAT - BRCA2_000893 - - - rs80359741 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/+ 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic (dominant) g.32953959_32953963del g.32379822_32379826del - - BRCA2_000893 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Unknown - pathogenic g.32953959_32953963del g.32379822_32379826del 9026_9030delATCAT - BRCA2_000893 - - - rs80359741 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1100 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic g.32953959_32953963del g.32379822_32379826del - - BRCA2_000893 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada unknown - - - - 1 Johan den Dunnen
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic g.32953959_32953963del g.32379822_32379826del - - BRCA2_000893 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 9 families F - France white - - - - 9 Johan den Dunnen
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic g.32953959_32953963del g.32379822_32379826del - - BRCA2_000893 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 17 families F - France unknown - - - - 17 Johan den Dunnen
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic g.32953959_32953963del g.32379822_32379826del - - BRCA2_000893 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany white - - - - 1 Johan den Dunnen
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic g.32953959_32953963del g.32379822_32379826del - - BRCA2_000893 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany unknown - - - - 1 Johan den Dunnen
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic g.32953959_32953963del g.32379822_32379826del - - BRCA2_000893 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Spain unknown - - - - 3 Johan den Dunnen
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic g.32953959_32953963del g.32379822_32379826del - - BRCA2_000893 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 49 families F - Spain white - - - - 49 Johan den Dunnen
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic g.32953959_32953963del g.32379822_32379826del - - BRCA2_000893 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States white - - - - 2 Johan den Dunnen
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic g.32953959_32953963del g.32379822_32379826del - - BRCA2_000893 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - United States Hispanic - - - - 6 Johan den Dunnen
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Unknown - pathogenic g.32953959_32953963del g.32379822_32379826del 9254del5 - BRCA2_000893 - Laitman, submitted - rs80359741 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Israel - - - - - 1 Eitan Friedman
+/. 23 c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Unknown - pathogenic g.32953959_32953963del g.32379822_32379826del 9254del5 - BRCA2_000893 - Laitman, submitted - rs80359741 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Turkey - - - - - 1 Eitan Friedman
+/. - c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic (dominant) g.32953959_32953963del g.32379822_32379826del 9026_9029delTATCA - BRCA2_000893 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 10 families with BRCA1/BRCA2 variant carriers F - France - - - - - 10 Johan den Dunnen
+/. - c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - pathogenic (dominant) g.32953959_32953963del g.32379822_32379826del 9026_9030delATCAT - BRCA2_000893 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - - - - 2 Johan den Dunnen
?/. - c.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - VUS g.32953959_32953963del g.32379822_32379826del - - BRCA2_000893 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.9026_9030del r.(?) p.(Tyr3009Serfs*7) - Parent #1 - NA g.32953959_32953963del - chr13_32953957_TTATCA_T - BRCA2_000893 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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