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.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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Disease     

ID_report     

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-/- 11 c.3682A>G r.(=) p.(Asn1228Asp) - Unknown - benign g.32912174A>G g.32338037A>G - - BRCA2_000094 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897722 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/. 11 c.3682A>G r.(?) p.Asn1228Asp - Unknown - NA g.32912174A>G g.32338037A>G N1228D - BRCA2_000094 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - benign g.32912174A>G g.32338037A>G - - BRCA2_000094 - shared by Quest Diagnostics - rs28897722 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.3682A>G r.(?) p.(Asn1228Asp) - Unknown ENIGMA benign g.32912174A>G g.32338037A>G N1228D - BRCA2_000094 - - - rs28897722 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3682A>G r.(?) p.(Asn1228Asp) - Parent #1 - benign g.32912174A>G g.32338037A>G - - BRCA2_000094 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.00000548 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - benign g.32912174A>G g.32338037A>G - - BRCA2_000094 - - - rs28897722 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR2053 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - benign g.32912174A>G g.32338037A>G - - BRCA2_000094 - - - rs28897722 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR0580 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/- 11 c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - VUS g.32912174A>G g.32338037A>G - - BRCA2_000094 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/- 11 c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - VUS g.32912174A>G g.32338037A>G - - BRCA2_000094 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-/- 11 c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - benign g.32912174A>G g.32338037A>G - - BRCA2_000094 - - - - Germline - - - - - DNA SEQ - - cancer, ovarian ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
-?/- - c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - likely benign g.32912174A>G g.32338037A>G BRCA2(NM_000059.3):c.3682A>G (p.N1228D, p.Asn1228Asp), BRCA2(NM_000059.4):c.3682A>G (p.N1228D) - BRCA2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - benign g.32912174A>G g.32338037A>G BRCA2(NM_000059.3):c.3682A>G (p.N1228D, p.Asn1228Asp), BRCA2(NM_000059.4):c.3682A>G (p.N1228D) - BRCA2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - benign g.32912174A>G g.32338037A>G BRCA2(NM_000059.3):c.3682A>G (p.N1228D, p.Asn1228Asp), BRCA2(NM_000059.4):c.3682A>G (p.N1228D) - BRCA2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - benign g.32912174A>G g.32338037A>G BRCA2(NM_000059.3):c.3682A>G (p.N1228D, p.Asn1228Asp), BRCA2(NM_000059.4):c.3682A>G (p.N1228D) - BRCA2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3682A>G r.(?) p.(Asn1228Asp) - Parent #1 - VUS g.32912174A>G g.32338037A>G - - BRCA2_000094 classified as class 3, 4 or 5 in 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 - 2 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 2 UK Variant Sharing Initiative
?/. - c.3682A>G r.(?) p.(Asn1228Asp) - Parent #1 - NA g.32912174A>G - chr13_32912174_A_G - BRCA2_000094 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 - 10/60466 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 - 10 BRIDGES consortium
?/. - c.3682A>G r.(?) p.(Asn1228Asp) - Parent #1 - NA g.32912174A>G - chr13_32912174_A_G - BRCA2_000094 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 - 11/53461 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 - 11 BRIDGES consortium
-/. - c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - benign g.32912174A>G - BRCA2(NM_000059.3):c.3682A>G (p.N1228D, p.Asn1228Asp), BRCA2(NM_000059.4):c.3682A>G (p.N1228D) - BRCA2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3682A>G r.(?) p.(Asn1228Asp) - Unknown - benign g.32912174A>G g.32338037A>G - - BRCA2_000094 - Nodo Argentina Varioma, unpublished - rs28897722 Germline - - - - - DNA SEQ - - BROVCA BR2990 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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