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.

80 entries on 1 page. Showing entries 1 - 80.
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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     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 8 c.658_659del r.(?) p.(Val220fs) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/. 8 c.658_659del r.(?) p.(fs*) FA FANCD1_00012 Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 8 c.658_659del r.(?) p.(fs*) FA FANCD1_00012 Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Hirsch 2004 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 8 c.658_659del r.(?) p.(fs*) FA FANCD1_00012 Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Hirsch 2004 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 8 c.658_659del r.(?) p.(fs*) FA FANCD1_00012 Parent #1 - VUS g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Offit 2003 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 8 c.658_659del r.(?) p.(fs*) FA FANCD1_00012 Parent #1 - VUS g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Offit 2003 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 8 c.658_659del r.(?) p.(fs*) FA FANCD1_00012 Parent #2 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Offit 2003 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 8 c.658_659del r.(?) p.(fs*) FA FANCD1_00012 Parent #2 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
+/+ 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del 886delGT (220 Stop 223) - BRCA2_001175 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
+/+ 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown kConFab pathogenic g.32903606_32903607del g.32329469_32329470del BRCA2 886_887delGT (STOP 223) - BRCA2_001175 - kConFab variant classification: P - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
+/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Germline - - - - - DNA HPLC, SEQ - - MINAS - PubMed: Heidemann 2012 - F - (Germany) - - - - - 1 James Whitworth
+/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Germline - - - - - DNA HPLC, SEQ - - MINAS - PubMed: Heidemann 2012 - M - (Germany) - - - - - 1 James Whitworth
+/+ 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Germline - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - - - - 1 Kathleen Claes
+/+ 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P14-4351 - 1 Arjen Mensenkamp
+/+ 8 c.658_659del r.(?) p.(Val220Ilefs*4) FA FANCD1_00012 Paternal (confirmed) - pathogenic g.32903606_32903607del g.32329469_32329470del g.18990_18991del - BRCA2_001175 - - - - Germline yes - - - - DNA SEQ - - FANCD1 - Svojgr_Fanconi FANCD1-case report, EJMG2015 - M no Czech Republic Czech - - - - 1 Eva Machackova
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del 886delGT-ter223 - BRCA2_001175 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 2 families (BRCA1/2 screening) - - Greece - - - - - 2 Florentia Fostira
+/+ 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic (dominant) g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - rs80359604 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR1402 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - rs80359604 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0334 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. - c.658_659del r.(?) p.(Val220IlefsTer4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del BRCA2(NM_000059.3):c.658_659del (p.(Val220IlefsTer4)), BRCA2(NM_000059.3):c.658_659delGT (p.V220Ifs*4), BRCA2(NM_000059.3):c.658_659delGT (p.Val22...) - BRCA2_001175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.658_659del r.(?) p.(Val220IlefsTer4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del BRCA2(NM_000059.3):c.658_659del (p.(Val220IlefsTer4)), BRCA2(NM_000059.3):c.658_659delGT (p.V220Ifs*4), BRCA2(NM_000059.3):c.658_659delGT (p.Val22...) - BRCA2_001175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Austria white - - - - 3 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - 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
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Czech Republic white - - - - 2 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - 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
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - France unknown - - - - 4 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - Germany white - - - - 7 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 15 families F - Germany unknown - - - - 15 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hungary white - - - - 1 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - Italy white - - - - 7 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Korea Asian - - - - 1 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 13 families F - Lithuania white - - - - 13 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Poland white - - - - 1 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - 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
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - 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
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - United Kingdom (Great Britain) white - - - - 6 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United States African American - - - - 4 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - 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
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - 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
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 36 families F - United States white - - - - 36 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs768580992 Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - PubMed: Jalkh 2017 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Jalkh 2017 cases F - Lebanon - - - - - 1 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 886delGT - BRCA2_001175 - PubMed: Jalkh 2017, Journal: Laitman 2019 - rs80359604 Germline - - - - - DNA SEQ - - BROVCA - PubMed: Jalkh 2017, Journal: Laitman 2019 cases F - Greece - - - - - 1 Eitan Friedman
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 886delGT - BRCA2_001175 - Laitman, submitted - rs80359604 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Kuwait - - - - - 1 Eitan Friedman
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 886delGT - BRCA2_001175 - Laitman, submitted - rs80359604 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Lebanon - - - - - 1 Eitan Friedman
?/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - VUS g.32903606_32903607del g.32329469_32329470del 657_658del - BRCA2_001175 - PubMed: Bhaskaran 2019 - (refs 90) - - Germline - 4/8085 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var36 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 4 Johan den Dunnen
+/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del 886delGT, 658_659delGT - BRCA2_001175 - PubMed: Bhaskaran 2019 - (refs 74, 79, 80, 82) - rs80359604 Germline - 5/6887 cases - - - DNA SEQ - - cancer, breast BRCA1-var37 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 5 Johan den Dunnen
+/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic (dominant) g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic (dominant) g.32903606_32903607del g.32329469_32329470del 657_658delTG - BRCA2_001175 - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017, PubMed: Wang 2015, Journal: Wang 2015, PubMed: Zhang 2016, Journal: Zhang 2016 - - Germline - 7 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017, PubMed: Wang 2015, Journal: Wang 2015, PubMed: Zhang 2016, Journal: Zhang 2016 breast/ovarian cancer families/patients - - China - - - - - 7 Xianqi Gao
?/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - VUS g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 classified as class 3, 4 or 5 in 3/12850 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 - 5 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 5 UK Variant Sharing Initiative
+/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic (dominant) g.32903606_32903607del g.32329469_32329470del 658_659delGT - BRCA2_001175 - - - rs80359604 Germline - 1/22 cases - - - DNA SEQ-NG-I - gene panel ATM, AXIN2, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MRE11A, MSH2, MSH6, MUTYH, NF1, PALB2, PMS2, PTEN, RAD51, RAD51C, RAD51D, STK11, TP53 cancer, breast P-75 - - F - Brazil - - - - - 1 CEGH-CEL
+/. 8 c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - pathogenic (dominant) g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Santonocito 2020 - rs80359604 Germline - 4/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 4 Johan den Dunnen
+/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Unknown - pathogenic (dominant) g.32903606_32903607del g.32329469_32329470del - - BRCA2_001175 - PubMed: Santonocito 2020 - rs80359604 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA Pat22 PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - NA g.32903606_32903607del - chr13_32903604_CTG_C - BRCA2_001175 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 - 11/60466 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 - 11 BRIDGES consortium
?/. - c.658_659del r.(?) p.(Val220Ilefs*4) - Parent #1 - NA g.32903606_32903607del - chr13_32903604_CTG_C - BRCA2_001175 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
+/. - c.658_659del r.(?) p.(Val220IlefsTer4) - Parent #1 - pathogenic g.32903606_32903607del g.32329469_32329470del c.657_658delTG - BRCA2_001175 - PubMed: Dong 2021 - rs80359604 Germline - 2/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 2F F - China - - - - - 2 Johan den Dunnen
+/. - c.658_659del r.(?) p.(Val220IlefsTer4) - Unknown - pathogenic g.32903606_32903607del - BRCA2(NM_000059.3):c.658_659del (p.(Val220IlefsTer4)), BRCA2(NM_000059.3):c.658_659delGT (p.V220Ifs*4), BRCA2(NM_000059.3):c.658_659delGT (p.Val22...) - BRCA2_001175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.658_659del r.(?) p.(Val220IlefsTer4) - Unknown - pathogenic g.32903606_32903607del - BRCA2(NM_000059.3):c.658_659del (p.(Val220IlefsTer4)), BRCA2(NM_000059.3):c.658_659delGT (p.V220Ifs*4), BRCA2(NM_000059.3):c.658_659delGT (p.Val22...) - BRCA2_001175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.658_659del r.(?) p.(Val220IlefsTer4) - Unknown - pathogenic g.32903606_32903607del - BRCA2(NM_000059.3):c.658_659del (p.(Val220IlefsTer4)), BRCA2(NM_000059.3):c.658_659delGT (p.V220Ifs*4), BRCA2(NM_000059.3):c.658_659delGT (p.Val22...) - BRCA2_001175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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