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.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+/+ 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del 5851_5854delAGTT - BRCA2_002145 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic (dominant) g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del 6076delGTTA (1962X) - BRCA2_002145 - PubMed: Torres 2007 - - Germline - 1/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam16 PubMed: Torres 2007 family, 7 affecteds - - Colombia Hispanic - - - - 7 Johan den Dunnen
+/+ 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del 6076 delGTTA - BRCA2_002145 - PubMed: Briceno-Balcazar 2017 - - Germline - - - - - DNA SEQ blood - cancer, breast 29021639-Pat? PubMed: Briceno-Balcazar 2017 analysis 256 breast cancer cases - - Colombia - - - - - 1 Johan den Dunnen
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada white - - - - 1 Johan den Dunnen
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Colombia Hispanic - - - - 2 Johan den Dunnen
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - 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.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - 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
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Germany unknown - - - - 3 Johan den Dunnen
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Hong Kong Asian - - - - 2 Johan den Dunnen
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - Italy white - - - - 8 Johan den Dunnen
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Spain white - - - - 1 Johan den Dunnen
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Hispanic - - - - 1 Johan den Dunnen
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - United States white - - - - 6 Johan den Dunnen
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Unknown - pathogenic g.32914343_32914346del g.32340206_32340209del 5851_5854delAGTT - BRCA2_002145 - PubMed: Loizidou 2017 - - Germline - 1/68 cases - - - DNA SEQ - - BROVCA - PubMed: Loizidou 2017 cases F - Cyprus - - - - - 1 Johan den Dunnen
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Unknown - pathogenic g.32914343_32914346del g.32340206_32340209del 5851_5854delAGTT - BRCA2_002145 - PubMed: Dodova 2015, Journal: Laitman 2019 - rs80359544 Germline - - - - - DNA SEQ - - BROVCA - PubMed: Dodova 2015, Journal: Laitman 2019 familes F - Bulgaria - - - - - 2 Eitan Friedman
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Unknown - pathogenic g.32914343_32914346del g.32340206_32340209del 5851_5854delAGTT - BRCA2_002145 - PubMed: Jakimovska 2018, Journal: Laitman 2019 - rs80359543 Germline - 2/313 cases - - - DNA SEQ - - BROVCA - PubMed: Jakimovska 2018, Journal: Laitman 2019 cases F - Macedonia - - - - - 2 Eitan Friedman
+/. - c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic g.32914343_32914346del g.32340206_32340209del 5851_5854delAGTT - BRCA2_002145 - PubMed: Bhaskaran 2019 - (refs 49, 54, 62, 79) - rs80359544 Germline - 4/832 cases - - - DNA SEQ - - cancer, breast BRCA1-var275 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 4 Johan den Dunnen
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Unknown - pathogenic (dominant) g.32914343_32914346del g.32340206_32340209del 5850_5853delTAGT - BRCA2_002145 - Journal: Gao 2020 as reported in: PubMed: Kwong 2009, Journal: Kwong 2009, PubMed: Kwong 2012, Journal: Kwong 2012 - - Germline - 2 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Kwong 2009, Journal: Kwong 2009, PubMed: Kwong 2012, Journal: Kwong 2012 breast/ovarian cancer families/patients - - China - - - - - 2 Xianqi Gao
+/. 11 c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - pathogenic (dominant) g.32914343_32914346del g.32340206_32340209del - - BRCA2_002145 - PubMed: Santonocito 2020 - rs80359543 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Parent #1 - NA g.32914343_32914346del - chr13_32914339_TGTTA_T - BRCA2_002145 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.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Unknown - pathogenic g.32914343_32914346del - BRCA2(NM_000059.4):c.5851_5854delAGTT (p.S1951Wfs*11) - BRCA2_002145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5851_5854del r.(?) p.(Ser1951Trpfs*11) - Unknown - pathogenic g.32914343_32914346del - BRCA2(NM_000059.4):c.5851_5854delAGTT (p.S1951Wfs*11) - BRCA2_002145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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