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.

67 entries on 1 page. Showing entries 1 - 67.
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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     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/. 11 c.5682C>G r.(?) p.(Y1894*) FA FANCD1_00009 Parent #2 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Wagner 2004 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 11 c.5682C>G r.(?) p.(Y1894*) FA FANCD1_00009 Parent #2 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Wagner 2004 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown kConFab pathogenic g.32914174C>G g.32340037C>G BRCA2 5910 C>G (Y1894X) - BRCA2_001092 - kConFab variant classification: P - - Germline - 10/1658 - - - DNA SEQ - - cancer, breast - - 10 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 10 kConFab - Heather Thorne
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/+ 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic (dominant) g.32914174C>G g.32340037C>G - - BRCA2_001092 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast ? - - - - Belgium - - - - - 1 Katrien Storm
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. - c.5682C>G r.(?) p.(Tyr1894Ter) - Unknown - pathogenic g.32914174C>G g.32340037C>G BRCA2(NM_000059.3):c.5682C>G (p.Y1894*, p.(Tyr1894Ter)), BRCA2(NM_000059.4):c.5682C>G (p.Y1894*) - BRCA2_001092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5682C>G r.(?) p.(Tyr1894Ter) - Unknown - pathogenic g.32914174C>G g.32340037C>G BRCA2(NM_000059.3):c.5682C>G (p.Y1894*, p.(Tyr1894Ter)), BRCA2(NM_000059.4):c.5682C>G (p.Y1894*) - BRCA2_001092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5682C>G r.(?) p.(Tyr1894Ter) - Unknown - pathogenic g.32914174C>G g.32340037C>G BRCA2(NM_000059.3):c.5682C>G (p.Y1894*, p.(Tyr1894Ter)), BRCA2(NM_000059.4):c.5682C>G (p.Y1894*) - BRCA2_001092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Austria white - - - - 1 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil white - - - - 1 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Canada white - - - - 5 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Czech Republic white - - - - 4 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Denmark white - - - - 1 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France white - - - - 1 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France unknown - - - - 1 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Germany white - - - - 3 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 20 families F - Germany unknown - - - - 20 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 25 families F - Italy white - - - - 25 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - South Africa white - - - - 1 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Spain white - - - - 2 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - 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
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - 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
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 33 families F - United Kingdom (Great Britain) white - - - - 33 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States African American - - - - 1 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States unknown - - - - 1 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 28 families F - United States white - - - - 28 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs41293497 Germline - 2/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 2 Yukihide Momozawa
+/. - c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G 5682C>G - BRCA2_001092 - PubMed: Bhaskaran 2019 - (refs 76, 80, 86, 87, 90) - rs41293497 Germline - 17/11308 cases - - - DNA SEQ-NG, SEQ - - cancer, breast BRCA1-var261 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 17 Johan den Dunnen
+/. - c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - pathogenic (dominant) g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - - - - 2 Johan den Dunnen
+/. 11 c.5682C>G r.(?) p.(Tyr1894*) - Unknown - pathogenic (dominant) g.32914174C>G g.32340037C>G - - BRCA2_001092 - Journal: Gao 2020 as reported in: PubMed: Yang 2015, Journal: Yang 2015, PubMed: Cao 2016, Journal: Cao 2016, PubMed: Sun 2017, Journal: Sun 2017, Wei 2017, PubMed: Lang 2017, Journal: Lang 2017, Xiaochen Yang 2014 - - Germline - 18 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Yang 2015, Journal: Yang 2015, PubMed: Cao 2016, Journal: Cao 2016, PubMed: Sun 2017, Journal: Sun 2017, Wei 2017, PubMed: Lang 2017, Journal: Lang 2017, Xiaochen Yang 2014 breast/ovarian cancer families/patients - - China - - - - - 18 Xianqi Gao
?/. - c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - VUS g.32914174C>G g.32340037C>G - - BRCA2_001092 classified as class 3, 4 or 5 in 134/12850 targeted tests and 48/25800 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 - 182 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 182 UK Variant Sharing Initiative
?/. - c.5682C>G r.(?) p.(Tyr1894*) - Parent #1 - NA g.32914174C>G - chr13_32914174_C_G - BRCA2_001092 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 - 14/60466 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 - 14 BRIDGES consortium
+/. - c.5682C>G r.(?) p.(Tyr1894Ter) - Parent #1 - pathogenic g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Dong 2021 - rs41293497 Germline - 1/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1M M - China - - - - - 1 Johan den Dunnen
+/. - c.5682C>G r.(?) p.(Tyr1894Ter) - Parent #1 ACMG pathogenic (dominant) g.32914174C>G g.32340037C>G - - BRCA2_001092 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat98 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.5682C>G r.(?) p.(Tyr1894Ter) - Unknown - pathogenic g.32914174C>G - BRCA2(NM_000059.3):c.5682C>G (p.Y1894*, p.(Tyr1894Ter)), BRCA2(NM_000059.4):c.5682C>G (p.Y1894*) - BRCA2_001092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5682C>G r.(?) p.(Tyr1894Ter) - Unknown - pathogenic g.32914174C>G - BRCA2(NM_000059.3):c.5682C>G (p.Y1894*, p.(Tyr1894Ter)), BRCA2(NM_000059.4):c.5682C>G (p.Y1894*) - BRCA2_001092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5682C>G r.(?) p.(Tyr1894Ter) - Unknown - pathogenic g.32914174C>G - BRCA2(NM_000059.3):c.5682C>G (p.Y1894*, p.(Tyr1894Ter)), BRCA2(NM_000059.4):c.5682C>G (p.Y1894*) - BRCA2_001092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5682C>G r.(?) p.(Tyr1894Ter) - Unknown - pathogenic (dominant) g.32914174C>G g.32340037C>G - - BRCA2_001092 - Nodo Argentina Varioma, unpublished - rs41293497 Germline - - - - - DNA SEQ - - BROVCA BR3066 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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