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.

74 entries on 1 page. Showing entries 1 - 74.
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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     

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Age at death     

VIP     

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Owner     
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 10 c.1813dup r.(?) p.(Ile605fs) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/. 10 c.1813dup r.(?) p.(fs*) FA FANCD1_00029 Parent #2 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 4/23/08: classified as a variant with clinical significance by BIC, >50 entries PubMed: Wagner 2004 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/. 10 c.1813dup r.(?) p.(fs*) FA FANCD1_00029 Parent #2 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 4/23/08: classified as a variant with clinical significance by BIC, >50 entries - - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
?/. 10 c.1813dup r.(?) p.(fs*) FA FANCD1_00029 Parent #2 - VUS g.32907428dup g.32333291dup - - BRCA2_001802 4/23/08: classified as a variant with clinical significance by BIC, >50 entries PubMed: Wagner 2004 - - Germline ? - - - - DNA SEQ - - FANCD1 - - - ? ? - - - - - - 1 Arleen D. Auerbach
+/+ 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup 1813dupA - BRCA2_001802 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup 1813dupA - BRCA2_001802 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup c.1813dupA - BRCA2_001802 - Pölsler et al. 2015, submitted - - Germline - 1/238 patients - - - DNA SEQ Leukocytes - BROVCA2 - Pölsler 2015, submitted - F no (Austria) - - - - - 1 Raphael Johannes Morscher
+/. - c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 (BIC: 2041del/insA) - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+ 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown kConFab pathogenic g.32907428dup g.32333291dup BRCA2 2041_2042 ins A (STOP 615) - BRCA2_001802 - kConFab variant classification: P - - Germline - 6/1658 - - - DNA SEQ - - cancer, breast - - 6 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 6 kConFab - Heather Thorne
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup 2041insA (STOP615) - BRCA2_001802 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 3 families (BRCA1/2 screening) - - Greece - - - - - 3 Florentia Fostira
+/+ 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic (dominant) g.32907428dup g.32333291dup - - BRCA2_001802 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup 1813dupA - BRCA2_001802 - - - rs397507277 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0891 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup 1813dupA - BRCA2_001802 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup 1813dupA - BRCA2_001802 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. - c.1813dup r.(?) p.(Ile605AsnfsTer11) - Unknown - pathogenic g.32907428dup g.32333291dup BRCA2(NM_000059.3):c.1813dup (p.(Ile605Asnfs*11)), BRCA2(NM_000059.3):c.1813dupA (p.I605Nfs*11), BRCA2(NM_000059.3):c.1813dupA (p.Ile605Asnfs*11), ... - BRCA2_001802 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1813dup r.(?) p.(Ile605AsnfsTer11) - Unknown - pathogenic g.32907428dup g.32333291dup BRCA2(NM_000059.3):c.1813dup (p.(Ile605Asnfs*11)), BRCA2(NM_000059.3):c.1813dupA (p.I605Nfs*11), BRCA2(NM_000059.3):c.1813dupA (p.Ile605Asnfs*11), ... - BRCA2_001802 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup 1813dupA - BRCA2_001802 - 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
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - Austria white - - - - 8 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - 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
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Canada white - - - - 4 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - 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
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - 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
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 11 families F - France unknown - - - - 11 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 13 families F - Germany white - - - - 13 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 41 families F - Germany unknown - - - - 41 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Hungary white - - - - 2 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Italy white - - - - 2 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - 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
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Spain white - - - - 4 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - United Kingdom (Great Britain) white - - - - 8 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Asian - - - - 1 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - 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
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United States Hispanic - - - - 4 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 55 families F - United States white - - - - 55 Johan den Dunnen
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup 2041insA - BRCA2_001802 - Laitman, submitted - rs80359308 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Albania - - - - - 1 Eitan Friedman
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup 2041insA - BRCA2_001802 - Laitman, submitted - rs80359308 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Greece - - - - - 1 Eitan Friedman
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup 1813dupA - BRCA2_001802 - PubMed: Stegel 2011, Journal: Laitman 2019 - rs80359308 Germline - - - - - DNA SEQ - - BROVCA - PubMed: Stegel 2011, Journal: Laitman 2019 families F - Slovenia - - - - - 1 Eitan Friedman
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup 1805insA - BRCA2_001802 - Laitman, submitted - rs1253401667 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Israel - - - - - 1 Eitan Friedman
+/. - c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup 1806dupA - BRCA2_001802 - PubMed: Bhaskaran 2019 - (refs 90) - rs80359306 Germline - 1/8085 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var108 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. - c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic g.32907428dup g.32333291dup 1813dupA - BRCA2_001802 - PubMed: Bhaskaran 2019 - (refs 87, 88) - rs80359308 Germline - 2/3304 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var110 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 2 Johan den Dunnen
+/. - c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup 1813dupA - BRCA2_001802 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic g.32907428dup g.32333291dup 1813dupA - BRCA2_001802 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic (dominant) g.32907428dup g.32333291dup c.1806dup - BRCA2_001802 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - - - - 2 Johan den Dunnen
+/. - c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - pathogenic (dominant) g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 3 families with BRCA1/BRCA2 variant carriers F - France - - - - - 3 Johan den Dunnen
+/. - c.1813dup r.(?) p.(Ile605AsnfsTer11) - Unknown - pathogenic g.32907428dup g.32333291dup BRCA2(NM_000059.3):c.1813dup (p.(Ile605Asnfs*11)), BRCA2(NM_000059.3):c.1813dupA (p.I605Nfs*11), BRCA2(NM_000059.3):c.1813dupA (p.Ile605Asnfs*11), ... - BRCA2_001802 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic (dominant) g.32907428dup g.32333291dup 1805_1806insA - BRCA2_001802 - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
+/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - pathogenic (dominant) g.32907428dup g.32333291dup 1811_1812insA - BRCA2_001802 - Journal: Gao 2020 as reported in: PubMed: Li 2017, Journal: Li 2017, PubMed: Lang 2017, Journal: Lang 2017 - - Germline - 2 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Li 2017, Journal: Li 2017, PubMed: Lang 2017, Journal: Lang 2017 breast/ovarian cancer families/patients - - China - - - - - 2 Xianqi Gao
+/. - c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown ACMG pathogenic g.32907428dup g.32333291dup - - BRCA2_001802 ACMG grading: PM2; Trujillano et al. 2013. J Med Genet 7: 455; Prontera et al. 2016. Public Health Genomics 6: 336 - - rs768562561 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - Germany - - - - - 1 Andreas Laner
?/. - c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - VUS g.32907428dup g.32333291dup 1813dupA - BRCA2_001802 classified as class 3, 4 or 5 in 30/12850 targeted tests and 20/25800 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 - 50 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 50 UK Variant Sharing Initiative
?/. - c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - NA g.32907428dup - chr13_32907420_G_GA - BRCA2_001802 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 - 20/60466 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 - 20 BRIDGES consortium
?/. - c.1813dup r.(?) p.(Ile605Asnfs*11) - Parent #1 - NA g.32907428dup - chr13_32907420_G_GA - BRCA2_001802 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.1813dup r.(?) p.(Ile605AsnfsTer11) - Unknown - pathogenic g.32907428dup - BRCA2(NM_000059.3):c.1813dup (p.(Ile605Asnfs*11)), BRCA2(NM_000059.3):c.1813dupA (p.I605Nfs*11), BRCA2(NM_000059.3):c.1813dupA (p.Ile605Asnfs*11), ... - BRCA2_001802 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1813dup r.(?) p.(Ile605Asnfs*11) - Unknown - likely pathogenic (dominant) g.32907428dup g.32333291dup - - BRCA2_001802 - PubMed: Van Der Merwe 2022, PubMed: Combrink 2021, PubMed: Van Der Merwe 2022 - rs80359308 Germline - - - - - DNA SEQ - - BROVCA family PubMed: Van Der Merwe 2022, PubMed: Combrink 2021, PubMed: Van Der Merwe 2022 1 family M - South Africa - - - - - 1 Johan den Dunnen
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