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     

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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     

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-/. 23 c.9116C>T r.(?) p.Pro3039Leu - Unknown - NA g.32954049C>T g.32379912C>T P3039L - BRCA2_000405 Protein likelihood ratio model; predicted neutral PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/? 23 c.9116C>T r.(?) p.(Pro3039Leu) - Unknown kConFab VUS g.32954049C>T g.32379912C>T BRCA2 9344 C>T (P3039L) - BRCA2_000405 - kConFab variant classification: UV - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
?/. 23 c.9116C>T r.(?) p.(Pro3039Leu) - Parent #1 - VUS g.32954049C>T g.32379912C>T 9344C>T-Pro3039Leu (P3039L) - BRCA2_000405 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
?/. 23 c.9116C>T r.(?) p.(Pro3039Leu) - Unknown - VUS g.32954049C>T g.32379912C>T P3039L - BRCA2_000405 - - - rs80359167 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 23 c.9116C>T r.(?) p.(Pro3039Leu) - Unknown - VUS g.32954049C>T g.32379912C>T - - BRCA2_000405 - - - rs80359167 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR1258 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 23 c.9116C>T r.(?) p.(Pro3039Leu) - Unknown - VUS g.32954049C>T g.32379912C>T - - BRCA2_000405 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. - c.9116C>T r.(?) p.(Pro3039Leu) - Unknown - VUS g.32954049C>T g.32379912C>T BRCA2(NM_000059.3):c.9116C>T (p.P3039L), BRCA2(NM_000059.4):c.9116C>T (p.P3039L) - BRCA2_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 23 c.9116C>T r.(?) p.(Pro3039Leu) - Unknown - likely benign g.32954049C>T g.32379912C>T - - BRCA2_000405 - - - rs80359167 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. - c.9116C>T r.(?) p.(Pro3039Leu) - Unknown - likely benign g.32954049C>T g.32379912C>T BRCA2(NM_000059.3):c.9116C>T (p.P3039L), BRCA2(NM_000059.4):c.9116C>T (p.P3039L) - BRCA2_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.9116C>T r.(?) p.(Pro3039Leu) - Parent #1 - VUS g.32954049C>T g.32379912C>T - - BRCA2_000405 classified as class 3, 4 or 5 in 4/25800 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 - 4 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 4 UK Variant Sharing Initiative
?/. 23 c.9116C>T r.(?) p.(Pro3039Leu) - Parent #1 - VUS g.32954049C>T g.32379912C>T - - BRCA2_000405 - PubMed: Santonocito 2020 - rs80359167 Germline - 2/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 2 Johan den Dunnen
?/. - c.9116C>T r.(?) p.(Pro3039Leu) - Unknown - VUS g.32954049C>T g.32379912C>T - - BRCA2_000405 - PubMed: Santonocito 2020 - rs80359167 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA Pat20 PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.9116C>T r.(?) p.(Pro3039Leu) - Unknown - VUS g.32954049C>T g.32379912C>T - - BRCA2_000405 - PubMed: Santonocito 2020 - rs80359167 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA Pat6 PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.9116C>T r.(?) p.(Pro3039Leu) - Parent #1 - NA g.32954049C>T - chr13_32954049_C_T - BRCA2_000405 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 - 11/60466 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 - 11 BRIDGES consortium
?/. - c.9116C>T r.(?) p.(Pro3039Leu) - Parent #1 - NA g.32954049C>T - chr13_32954049_C_T - BRCA2_000405 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 - 10/53461 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 - 10 BRIDGES consortium
?/. - c.9116C>T r.(?) p.(Pro3039Leu) - Parent #1 - VUS g.32954049C>T g.32379912C>T - - BRCA2_000405 - PubMed: Dong 2021 - rs80359167 Germline - 3/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 3F F - China - - - - - 3 Johan den Dunnen
-?/. - c.9116C>T r.(?) p.(Pro3039Leu) - Unknown - likely benign g.32954049C>T - BRCA2(NM_000059.3):c.9116C>T (p.P3039L), BRCA2(NM_000059.4):c.9116C>T (p.P3039L) - BRCA2_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9116C>T r.(?) p.(Pro3039Leu) - Unknown - likely benign g.32954049C>T - BRCA2(NM_000059.3):c.9116C>T (p.P3039L), BRCA2(NM_000059.4):c.9116C>T (p.P3039L) - BRCA2_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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