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.

18 entries on 1 page. Showing entries 1 - 18.
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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     

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VIP     

Data_av     

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Panel size     

Owner     
+/. 11 c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Parent #1 - pathogenic g.32912907_32912910del g.32338770_32338773del 4643del4-ter1477, 4415_4418delAGAA (CIMBA ammended) - BRCA2_003802 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 5 families (BRCA1/2 screening) - - Greece - - - - - 5 Florentia Fostira
+/+ 11 c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Parent #1 - pathogenic (dominant) g.32912907_32912910del g.32338770_32338773del - - BRCA2_003802 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Parent #1 - pathogenic g.32912907_32912910del g.32338770_32338773del - - BRCA2_003802 - 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.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Parent #1 - pathogenic g.32912907_32912910del g.32338770_32338773del - - BRCA2_003802 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada unknown - - - - 1 Johan den Dunnen
+/. 11 c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Parent #1 - pathogenic g.32912907_32912910del g.32338770_32338773del - - BRCA2_003802 - 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
+/. 11 c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Parent #1 - pathogenic g.32912907_32912910del g.32338770_32338773del - - BRCA2_003802 - 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
+/. 11 c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Unknown - pathogenic g.32912907_32912910del g.32338770_32338773del 4642del4 - BRCA2_003802 - Laitman, submitted - rs397507333 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Greece - - - - - 1 Eitan Friedman
+/. 11 c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Unknown - pathogenic g.32912907_32912910del g.32338770_32338773del 4642del4 - BRCA2_003802 - Laitman, submitted - rs397507333 Germline - - - - - DNA SEQ - - BROVCA - Journal: Laitman 2019 cases F - Iran - - - - - 1 Eitan Friedman
+/. - c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Unknown - pathogenic g.32912907_32912910del g.32338770_32338773del 4415_4418delAGAA - BRCA2_003802 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Unknown - pathogenic g.32912907_32912910del g.32338770_32338773del 4415_4418delAGAA - BRCA2_003802 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Unknown - pathogenic g.32912907_32912910del g.32338770_32338773del 4415_4418delAGAA - BRCA2_003802 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Unknown - pathogenic g.32912907_32912910del g.32338770_32338773del 4415_4418delAGAA - BRCA2_003802 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. 11 c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Unknown - pathogenic (dominant) g.32912907_32912910del g.32338770_32338773del 4410_4413delAAGA - BRCA2_003802 - Journal: Gao 2020 as reported in: Wei 2017 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: Wei 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. - c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Parent #1 - NA g.32912907_32912910del - chr13_32912901_TAAGA_T - BRCA2_003802 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 - 1/60466 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 - 1 BRIDGES consortium
?/. - c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Parent #1 - NA g.32912907_32912910del - chr13_32912901_TAAGA_T - BRCA2_003802 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.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Parent #1 - VUS g.32912907_32912910del g.32338770_32338773del - - BRCA2_003802 classified as class 3, 4 or 5 in 24/12850 targeted tests and 6/25800 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 - 30 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 30 UK Variant Sharing Initiative
+/. - c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Maternal (confirmed) - pathogenic (dominant) g.32912907_32912910del g.32338770_32338773del 4415_4418delAGAA - BRCA2_003802 - PubMed: Ip 2022, Journal: Ip 2022 - - Germline yes - - - - DNA SEQ - - cancer, breast, FANCD1 patient PubMed: Ip 2022, Journal: Ip 2022 3-generation family, affected aunt/grandmother/female, unaffected carrier father F - Australia - - - - - 3 Johan den Dunnen
+/. - c.4415_4418del r.(?) p.(Lys1472Thrfs*6) - Parent #1 - pathogenic (dominant) g.32912907_32912910del g.32338770_32338773del 4415_4418delAGAA - BRCA2_003802 - PubMed: Ip 2022, Journal: Ip 2022 - - Germline yes - - - - DNA SEQ - - cancer, breast family PubMed: Ip 2022, Journal: Ip 2022 grandmother/aunt F - Australia - - - - - 2 Johan den Dunnen
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