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.

16 entries on 1 page. Showing entries 1 - 16.
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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     

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Consanguinity     

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Panel size     

Owner     
+/+ 3 c.250C>T r.(?) p.(Gln84*) - Unknown kConFab pathogenic g.32893396C>T g.32319259C>T BRCA2 478 C>T (Q84X) - BRCA2_003242 - kConFab variant classification: P - - Germline - 5/1658 - - - DNA SEQ - - cancer, breast - - 5 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 5 kConFab - Heather Thorne
+/+ 3 c.250C>T r.(?) p.(Gln84*) - Parent #1 - pathogenic (dominant) g.32893396C>T g.32319259C>T - - BRCA2_003242 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.250C>T r.(?) p.(Gln84*) - Parent #1 - pathogenic g.32893396C>T g.32319259C>T - - BRCA2_003242 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France white - - - - 2 Johan den Dunnen
+/. 3 c.250C>T r.(?) p.(Gln84*) - Parent #1 - pathogenic g.32893396C>T g.32319259C>T - - BRCA2_003242 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France unknown - - - - 3 Johan den Dunnen
+/. 3 c.250C>T r.(?) p.(Gln84*) - Parent #1 - pathogenic g.32893396C>T g.32319259C>T - - BRCA2_003242 - 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
+/. 3 c.250C>T r.(?) p.(Gln84*) - Parent #1 - pathogenic g.32893396C>T g.32319259C>T - - BRCA2_003242 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hong Kong African American - - - - 1 Johan den Dunnen
+/. 3 c.250C>T r.(?) p.(Gln84*) - Parent #1 - pathogenic g.32893396C>T g.32319259C>T - - BRCA2_003242 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Sweden white - - - - 1 Johan den Dunnen
+/. 3 c.250C>T r.(?) p.(Gln84*) - Parent #1 - pathogenic g.32893396C>T g.32319259C>T - - BRCA2_003242 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Sweden unknown - - - - 2 Johan den Dunnen
+/. 3 c.250C>T r.(?) p.(Gln84*) - Parent #1 - pathogenic g.32893396C>T g.32319259C>T - - BRCA2_003242 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United Kingdom (Great Britain) white - - - - 2 Johan den Dunnen
+/. 3 c.250C>T r.(?) p.(Gln84*) - Parent #1 - pathogenic g.32893396C>T g.32319259C>T - - BRCA2_003242 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - United States white - - - - 5 Johan den Dunnen
+/. - c.250C>T r.(?) p.(Gln84*) - Parent #1 - pathogenic g.32893396C>T g.32319259C>T 250C>T - BRCA2_003242 - PubMed: Bhaskaran 2019 - (refs 54, 87) - rs80358515 Germline - 2/3642 cases - - - DNA SEQ-NG, SEQ - - cancer, breast BRCA1-var14 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 2 Johan den Dunnen
+/. - c.250C>T r.(?) p.(Gln84*) - Parent #1 - pathogenic (dominant) g.32893396C>T g.32319259C>T - - BRCA2_003242 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 4 families with BRCA1/BRCA2 variant carriers F - France - - - - - 4 Johan den Dunnen
+/. 3 c.250C>T r.(?) p.(Gln84*) - Unknown - pathogenic (dominant) g.32893396C>T g.32319259C>T - - BRCA2_003242 - Journal: Gao 2020 as reported in: PubMed: Kwong 2012, Journal: Kwong 2012, PubMed: Lang 2017, Journal: Lang 2017 - - Germline - 2 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Kwong 2012, Journal: Kwong 2012, PubMed: Lang 2017, Journal: Lang 2017 breast/ovarian cancer families/patients - - China - - - - - 2 Xianqi Gao
?/. - c.250C>T r.(?) p.(Gln84*) - Parent #1 - NA g.32893396C>T - chr13_32893396_C_T - BRCA2_003242 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
+/. - c.250C>T r.(?) p.(Gln84*) - Unknown - pathogenic g.32893396C>T - - - BRCA2_003242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.250C>T r.(?) p.(Gln84*) - Parent #1 - VUS g.32893396C>T g.32319259C>T - - BRCA2_003242 classified as class 3, 4 or 5 in 10/12850 targeted tests and 2/25800 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 - 12 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 12 UK Variant Sharing Initiative
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