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.

44 entries on 1 page. Showing entries 1 - 44.
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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.5073dup r.(?) p.(Trp1692fs) - Unknown - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.5073dup r.(?) p.(Trp1692fs) - Unknown - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.5073dup r.(?) p.(Trp1692fs) - Unknown - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.5073dup r.(?) p.(Trp1692fs) - Unknown - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/. 11 c.5073dup r.(?) p.(fs*) FA FANCD1_00007 Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - PubMed: Offit 2003 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup 5073dupA - BRCA2_001899 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/. - c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+ 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Unknown kConFab pathogenic g.32913565dup g.32339428dup BRCA2 5301_5302 ins A (STOP 1694) - BRCA2_001899 - kConFab variant classification: P - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
+/+ 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic (dominant) g.32913565dup g.32339428dup 5073dupA - BRCA2_001899 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Unknown - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. - c.5073dup r.(?) p.(Trp1692MetfsTer3) - Unknown - pathogenic g.32913565dup g.32339428dup BRCA2(NM_000059.3):c.5073dupA (p.Trp1692Metfs*3), BRCA2(NM_000059.3):c.5073dupA (p.W1692Mfs*3) - BRCA2_001899 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Brazil white - - - - 2 Johan den Dunnen
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - 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
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - 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.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - 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.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - 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
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Italy white - - - - 5 Johan den Dunnen
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Malaysia Asian - - - - 3 Johan den Dunnen
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - 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.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - 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.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - 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.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United Kingdom (Great Britain) white - - - - 4 Johan den Dunnen
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - 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
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States unknown - - - - 2 Johan den Dunnen
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 30 families F - United States white - - - - 30 Johan den Dunnen
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Unknown - pathogenic g.32913565dup g.32339428dup 5295insA - BRCA2_001899 - PubMed: Yazici 2000 - rs1265028174 Germline - 1/53 case families - - - DNA PTT, SEQ - - BROVCA - PubMed: Yazici 2000 familial F - Turkey - - - - - 1 Johan den Dunnen
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Unknown - pathogenic g.32913565dup g.32339428dup 5301insA - BRCA2_001899 - Laitman, submitted - rs80359480 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Italy - - - - - 1 Eitan Friedman
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Unknown - pathogenic g.32913565dup g.32339428dup 5301insA - BRCA2_001899 - Laitman, submitted - rs80359480 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Morocco - - - - - 1 Eitan Friedman
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Unknown - pathogenic g.32913565dup g.32339428dup 5295insA - BRCA2_001899 - PubMed: Yazici 2002, Journal: Laitman 2019 - rs1265028174 Germline - 1/120 cases cancer, ovarian - - - DNA SEQ - - BROVCA - PubMed: Yazici 2002, Journal: Laitman 2019 cases F - Turkey - - - - - 1 Eitan Friedman
?/. - c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - VUS g.32913565dup g.32339428dup 5067dupA - BRCA2_001899 - PubMed: Bhaskaran 2019 - (refs 90) - - Germline - 2/8085 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var226 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 2 Johan den Dunnen
+/. - c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic g.32913565dup g.32339428dup 5073dupA, 5301insA - BRCA2_001899 - PubMed: Bhaskaran 2019 - (refs 15, 62, 64, 79, 89) - rs80359480 Germline - 7/1965 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var227 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 7 Johan den Dunnen
+/. - c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic (dominant) g.32913565dup g.32339428dup c.5072dup - BRCA2_001899 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Unknown - pathogenic (dominant) g.32913565dup g.32339428dup 5066_5067insA - BRCA2_001899 - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017 - - Germline - 2 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017 breast/ovarian cancer families/patients - - China - - - - - 2 Xianqi Gao
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Unknown - pathogenic (dominant) g.32913565dup g.32339428dup 5071_5072insA - BRCA2_001899 - Journal: Gao 2020 as reported in: PubMed: Suter 2004, Journal: Suter 2004, PubMed: Shi 2017, Journal: Shi 2017 - - Germline - 4 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Suter 2004, Journal: Suter 2004, PubMed: Shi 2017, Journal: Shi 2017 breast/ovarian cancer families/patients - - China - - - - - 4 Xianqi Gao
?/. - c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - VUS g.32913565dup g.32339428dup - - BRCA2_001899 classified as class 3, 4 or 5 in 35/12850 targeted tests and 16/25800 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 - 51 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 51 UK Variant Sharing Initiative
+/. 11 c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - pathogenic (dominant) g.32913565dup g.32339428dup - - BRCA2_001899 - PubMed: Santonocito 2020 - rs80359479 Germline - 3/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 3 Johan den Dunnen
?/. - c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - NA g.32913565dup - chr13_32913558_C_CA - BRCA2_001899 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 - 5/60466 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 - 5 BRIDGES consortium
?/. - c.5073dup r.(?) p.(Trp1692Metfs*3) - Parent #1 - NA g.32913565dup - chr13_32913558_C_CA - BRCA2_001899 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 - 2/53461 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 - 2 BRIDGES consortium
+/. - c.5073dup r.(?) p.(Trp1692MetfsTer3) - Parent #1 - pathogenic g.32913565dup g.32339428dup c.5067dupA - BRCA2_001899 - PubMed: Dong 2021 - rs80359480 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.5073dup r.(?) p.(Trp1692MetfsTer3) - Unknown - pathogenic g.32913565dup - BRCA2(NM_000059.3):c.5073dupA (p.Trp1692Metfs*3), BRCA2(NM_000059.3):c.5073dupA (p.W1692Mfs*3) - BRCA2_001899 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5073dup r.(?) p.(Trp1692MetfsTer3) - Parent #1 ACMG pathogenic (dominant) g.32913565dup g.32339428dup c.5073dupA - BRCA2_001899 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat99 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.5073dup r.(?) p.(Trp1692MetfsTer3) - Parent #1 ACMG pathogenic (dominant) g.32913565dup g.32339428dup - - BRCA2_001899 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat114 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.5073dup r.(?) p.(Trp1692MetfsTer3) - Parent #1 ACMG pathogenic (dominant) g.32913565dup g.32339428dup c.5073dupA - BRCA2_001899 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat84 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.5073dup r.(?) p.(Trp1692MetfsTer3) - Unknown - pathogenic g.32913565dup g.32339428dup - - BRCA2_001899 - Yuen (unpublished) - - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_31 Yuen (unpublished) - F - Singapore China - - - - 1 Jeanette Yuen
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