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.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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ID_report     

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+/+ 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - Pölsler et al. 2015, submitted - - Germline - 1/238 patients - - - DNA SEQ Leukocytes - BROVCA2 - Pölsler 2015, submitted - F no (Austria) - - - - - 1 Raphael Johannes Morscher
+/+ 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown kConFab pathogenic g.32968951C>T g.32394814C>T BRCA2 9610 C>T (R3128X) - BRCA2_001126 - kConFab variant classification: P - - Germline - 4/1658 - - - DNA SEQ - - cancer, breast - - 4 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 4 kConFab - Heather Thorne
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T 9610C>T(R3128X) - BRCA2_001126 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 2 families (BRCA1/2 screening) - - Greece - - - - - 2 Florentia Fostira
+/+ 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic (dominant) g.32968951C>T g.32394814C>T - - BRCA2_001126 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. - c.9382C>T r.(?) p.(Arg3128Ter) - Unknown - pathogenic g.32968951C>T g.32394814C>T BRCA2(NM_000059.3):c.9382C>T (p.R3128*, p.(Arg3128Ter), p.Arg3128*), BRCA2(NM_000059.4):c.9382C>T (p.R3128*) - BRCA2_001126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9382C>T r.(?) p.(Arg3128Ter) - Unknown - pathogenic g.32968951C>T g.32394814C>T BRCA2(NM_000059.3):c.9382C>T (p.R3128*, p.(Arg3128Ter), p.Arg3128*), BRCA2(NM_000059.4):c.9382C>T (p.R3128*) - BRCA2_001126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9382C>T r.(?) p.(Arg3128Ter) - Unknown - pathogenic g.32968951C>T g.32394814C>T BRCA2(NM_000059.3):c.9382C>T (p.R3128*, p.(Arg3128Ter), p.Arg3128*), BRCA2(NM_000059.4):c.9382C>T (p.R3128*) - BRCA2_001126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9382C>T r.(?) p.(Arg3128Ter) - Unknown - pathogenic g.32968951C>T g.32394814C>T BRCA2(NM_000059.3):c.9382C>T (p.R3128*, p.(Arg3128Ter), p.Arg3128*), BRCA2(NM_000059.4):c.9382C>T (p.R3128*) - BRCA2_001126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - - - DNA SEQ-NG - - BROVCA 29176636-Pat PubMed: Arai 2018, Journal: Arai 2018 analysis 860 breast/ovarian cancer pedigrees - - Japan - - - - - 1 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Austria white - - - - 2 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil African American - - - - 1 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil Asian - - - - 1 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - 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
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil unknown - - - - 1 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada Asian - - - - 1 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Canada unknown - - - - 2 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Canada white - - - - 3 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - 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
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Denmark white - - - - 3 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - 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
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - 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
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - 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
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - Germany unknown - - - - 6 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hong Kong Asian - - - - 1 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Italy white - - - - 4 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Portugal white - - - - 3 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Spain white - - - - 5 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 17 families F - United Kingdom (Great Britain) white - - - - 17 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States Hispanic - - - - 2 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States Jewish-Ashkenazi - - - - 3 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States Asian - - - - 3 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - United States African American - - - - 5 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - United States unknown - - - - 5 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 20 families F - United States white - - - - 20 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359212 Germline - 3/7051 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
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359212 Germline - 1/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1 Yukihide Momozawa
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80359212 Germline - - - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T R3128X - BRCA2_001126 - Laitman, submitted - rs80359212 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Greece - - - - - 2 Eitan Friedman
+/. - c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T 9382C>T - BRCA2_001126 - PubMed: Bhaskaran 2019 - (refs 79, 83, 87, 90) - rs80359212 Germline - 7/11583 cases - - - DNA SEQ-NG, SEQ - - cancer, breast BRCA1-var514 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 7 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - - - rs80359212 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. - c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic (dominant) g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 4 families with BRCA1/BRCA2 variant carriers F - France - - - - - 4 Johan den Dunnen
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - pathogenic (dominant) g.32968951C>T g.32394814C>T - - BRCA2_001126 - Journal: Gao 2020 as reported in: PubMed: Kwong 2016, Journal: Kwong 2016, PubMed: Sun 2017, Journal: Sun 2017, Zhong 2016, PubMed: Lang 2017, Journal: Lang 2017 - - Germline - 7 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Kwong 2016, Journal: Kwong 2016, PubMed: Sun 2017, Journal: Sun 2017, Zhong 2016, PubMed: Lang 2017, Journal: Lang 2017 breast/ovarian cancer families/patients - - China - - - - - 7 Xianqi Gao
?/. - c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - VUS g.32968951C>T g.32394814C>T - - BRCA2_001126 classified as class 3, 4 or 5 in 33/12850 targeted tests and 15/25800 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 - 48 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 48 UK Variant Sharing Initiative
+/. - c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80359212 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 25 c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - pathogenic (dominant) g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Santonocito 2020 - rs80359212 Germline - 2/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 2 Johan den Dunnen
?/. - c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - NA g.32968951C>T - chr13_32968951_C_T - BRCA2_001126 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 - 7/60466 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 - 7 BRIDGES consortium
?/. - c.9382C>T r.(?) p.(Arg3128*) - Parent #1 - NA g.32968951C>T - chr13_32968951_C_T - BRCA2_001126 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 - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
+/. 25 c.9382C>T r.(?) p.(Arg3128Ter) - Unknown IARC pathogenic g.32968951C>T g.32394814C>T 9382C>T - BRCA2_001126 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
+/. - c.9382C>T r.(?) p.(Arg3128Ter) - Parent #1 - pathogenic g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Dong 2021 - rs80359212 Germline - 1/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1F F - China - - - - - 1 Johan den Dunnen
+/. - c.9382C>T r.(?) p.(Arg3128Ter) - Unknown - pathogenic g.32968951C>T - BRCA2(NM_000059.3):c.9382C>T (p.R3128*, p.(Arg3128Ter), p.Arg3128*), BRCA2(NM_000059.4):c.9382C>T (p.R3128*) - BRCA2_001126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.9382C>T r.(?) p.(Arg3128Ter) - Unknown ACMG pathogenic (dominant) g.32968951C>T g.32394814C>T - - BRCA2_001126 - - 52826 - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_25 - - M ? Brazil - - - - - 1 Giovana Torrezan
+/. - c.9382C>T r.(?) p.(Arg3128Ter) - Unknown - pathogenic g.32968951C>T - BRCA2(NM_000059.3):c.9382C>T (p.R3128*, p.(Arg3128Ter), p.Arg3128*), BRCA2(NM_000059.4):c.9382C>T (p.R3128*) - BRCA2_001126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 25 c.9382C>T r.(?) p.(Arg3128*) - Unknown - likely pathogenic (dominant) g.32968951C>T g.32394814C>T - - BRCA2_001126 - PubMed: Van Der Merwe 2022 - - Germline - - - - - DNA SEQ - - BROVCA family PubMed: Van Der Merwe 2022 1 family F - South Africa - - - - - 1 Johan den Dunnen
+/. - c.9382C>T r.(?) p.(Arg3128Ter) - Unknown - pathogenic g.32968951C>T - BRCA2(NM_000059.3):c.9382C>T (p.R3128*, p.(Arg3128Ter), p.Arg3128*), BRCA2(NM_000059.4):c.9382C>T (p.R3128*) - BRCA2_001126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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