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.

34 entries on 1 page. Showing entries 1 - 34.
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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)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

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Owner     
-/- 22 c.8850G>T r.(=) p.(Lys2950Asn) - Unknown - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897754 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 22 c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 22 c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 22 c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 22 c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
-/- 22 c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
-/- 22 c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
-/- 22 c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
-/- 22 c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
?/. 22 c.8850G>T r.(?) p.Lys2950Asn - Unknown - NA g.32953549G>T g.32379412G>T K2950N - BRCA2_000379 LOH analysis; no LOH PubMed: Beristain 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8850G>T r.(?) p.Lys2950Asn - Unknown - NA g.32953549G>T g.32379412G>T K2950N - BRCA2_000379 Prevalence in normal controls; predicted neutral PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8850G>T r.(?) p.Lys2950Asn - Unknown - NA g.32953549G>T g.32379412G>T K2950N - BRCA2_000379 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 22 c.8850G>T r.(?) p.Lys2950Asn - Unknown - NA g.32953549G>T g.32379412G>T K2950N - BRCA2_000379 - PubMed: Edwards 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8850G>T r.(?) p.Lys2950Asn - Unknown - NA g.32953549G>T g.32379412G>T K2950N - BRCA2_000379 Prevalence in normal controls; predicted neutral PubMed: Gayther 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8850G>T r.(?) p.Lys2950Asn - Unknown - NA g.32953549G>T g.32379412G>T K2950N - BRCA2_000379 Protein likelihood ratio model; predicted neutral PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8850G>T r.(?) p.Lys2950Asn - Unknown - NA g.32953549G>T g.32379412G>T K2950N - BRCA2_000379 Multifactorial likelihood-ratio model; predicted neutral PubMed: Spurdle 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - shared by Quest Diagnostics - rs28897754 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/. - c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - - - rs28897754 Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/- 22 c.8850G>T r.(?) p.(Lys2950Asn) - Unknown kConFab likely benign g.32953549G>T g.32379412G>T BRCA2 9078 G>T (K2950N) - BRCA2_000379 - kConFab variant classification: LCS - - Germline - 8/1658 - - - DNA SEQ - - cancer, breast - - 8 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 8 kConFab - Heather Thorne
?/. 22 c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - VUS g.32953549G>T g.32379412G>T K2950N - BRCA2_000379 - - - rs28897754 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - - - rs28897754 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1414 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 22 c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - - - rs28897754 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR0990 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/? 22 c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - VUS g.32953549G>T g.32379412G>T 9078G>T (K2950N) - BRCA2_000379 - PubMed: Torres 2007 - - Germline - 1/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam41 PubMed: Torres 2007 family, 3 affecteds - - Colombia Hispanic - - - - 3 Johan den Dunnen
-/. - c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - benign g.32953549G>T g.32379412G>T BRCA2(NM_000059.3):c.8850G>T (p.K2950N, p.(Lys2950Asn)), BRCA2(NM_000059.4):c.8850G>T (p.K2950N) - BRCA2_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - benign g.32953549G>T g.32379412G>T BRCA2(NM_000059.3):c.8850G>T (p.K2950N, p.(Lys2950Asn)), BRCA2(NM_000059.4):c.8850G>T (p.K2950N) - BRCA2_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - benign g.32953549G>T g.32379412G>T BRCA2(NM_000059.3):c.8850G>T (p.K2950N, p.(Lys2950Asn)), BRCA2(NM_000059.4):c.8850G>T (p.K2950N) - BRCA2_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - benign g.32953549G>T g.32379412G>T BRCA2(NM_000059.3):c.8850G>T (p.K2950N, p.(Lys2950Asn)), BRCA2(NM_000059.4):c.8850G>T (p.K2950N) - BRCA2_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - benign g.32953549G>T g.32379412G>T BRCA2(NM_000059.3):c.8850G>T (p.K2950N, p.(Lys2950Asn)), BRCA2(NM_000059.4):c.8850G>T (p.K2950N) - BRCA2_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - VUS g.32953549G>T g.32379412G>T - - BRCA2_000379 classified as class 1, 2, 3, 4 or 5 in 3/12850 targeted tests and 14/25800 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 - 17 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 17 UK Variant Sharing Initiative
-?/. - c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - likely benign g.32953549G>T g.32379412G>T BRCA2(NM_000059.3):c.8850G>T (p.K2950N, p.(Lys2950Asn)), BRCA2(NM_000059.4):c.8850G>T (p.K2950N) - BRCA2_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - NA g.32953549G>T - chr13_32953549_G_T - BRCA2_000379 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 - 86/60466 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 - 86 BRIDGES consortium
?/. - c.8850G>T r.(?) p.(Lys2950Asn) - Parent #1 - NA g.32953549G>T - chr13_32953549_G_T - BRCA2_000379 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 - 71/53461 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 - 71 BRIDGES consortium
-/. - c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - benign g.32953549G>T - BRCA2(NM_000059.3):c.8850G>T (p.K2950N, p.(Lys2950Asn)), BRCA2(NM_000059.4):c.8850G>T (p.K2950N) - BRCA2_000379 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 22 c.8850G>T r.(?) p.(Lys2950Asn) - Unknown - benign g.32953549G>T g.32379412G>T - - BRCA2_000379 - Nodo Argentina Varioma, unpublished - rs28897754 Germline - - - - - DNA SEQ - - BROVCA BR3141 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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