Full data view for gene BRCA1

All records describing functional studies of specific variants. BRCA1 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_007294.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Owner     
?/? 5 c.199G>T r.(?) p.(Asp67Tyr) - Unknown - VUS g.41258486C>A g.43106469C>A - - BRCA1_000056 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 5 c.199G>T r.(?) p.(Asp67Tyr) - Unknown - VUS g.41258486C>A g.43106469C>A - - BRCA1_000056 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 5 c.199G>T r.(?) p.(Asp67Tyr) - Unknown - VUS g.41258486C>A g.43106469C>A - - BRCA1_000056 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 5 c.199G>T r.(?) p.(Asp67Tyr) - Unknown - VUS g.41258486C>A g.43106469C>A - - BRCA1_000056 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
?/? 5 c.199G>T r.(?) p.(Asp67Tyr) - Unknown - VUS g.41258486C>A g.43106469C>A - - BRCA1_000056 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 5 c.199G>T r.(?) p.(Asp67Tyr) - Unknown - VUS g.41258486C>A g.43106469C>A - - BRCA1_000056 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 5 c.199G>T r.(?) p.(Asp67Tyr) - Unknown - VUS g.41258486C>A g.43106469C>A - - BRCA1_000056 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
?/. 5 c.199G>T r.(?) p.(Asp67Tyr) - Parent #1 - VUS g.41258486C>A g.43106469C>A - - BRCA1_000056 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
?/. 5 c.199G>T r.(?) p.Asp67Tyr - Unknown - NA g.41258486C>A g.43106469C>A D67Y - BRCA1_000056 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.199G>T r.(?) p.Asp67Tyr - Unknown - NA g.41258486C>A g.43106469C>A D67Y - BRCA1_000056 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.199G>T r.(?) p.Asp67Tyr - Unknown - NA g.41258486C>A g.43106469C>A D67Y - BRCA1_000056 E3 Ub-ligase activity assay BRCA1/RING-BARD1; as wildtype control PubMed: Morris 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.199G>T r.(?) p.Asp67Tyr - Unknown - NA g.41258486C>A g.43106469C>A D67Y - BRCA1_000056 Homology directed recombination; no impact on protein function PubMed: Ransburgh 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.199G>T r.(?) p.Asp67Tyr - Unknown - NA g.41258486C>A g.43106469C>A D67Y - BRCA1_000056 protein binding ability BARD1; no impact on protein function PubMed: Ransburgh 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.199G>T r.= p.Asp67Tyr - Unknown - NA g.41258486C>A g.43106469C>A c.199G>T - BRCA1_000056 splicing reporter minigene; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.199G>T r.(?) p.(Asp67Tyr) - Parent #1 - VUS g.41258486C>A g.43106469C>A - - BRCA1_000056 - - - - Unknown - - - - - DNA SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Rien Blok
-/- 5 c.199G>T r.(?) p.(Asp67Tyr) - Parent #1 - benign g.41258486C>A g.43106469C>A - - BRCA1_000056 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 = 0.0000029 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.199G>T r.(?) p.(Asp67Tyr) - Unknown - benign g.41258486C>A g.43106469C>A BRCA1(NM_007294.3):c.199G>T (p.D67Y, p.(Asp67Tyr)), BRCA1(NM_007294.4):c.199G>T (p.D67Y) - BRCA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.199G>T r.(?) p.(Asp67Tyr) - Unknown - benign g.41258486C>A g.43106469C>A BRCA1(NM_007294.3):c.199G>T (p.D67Y, p.(Asp67Tyr)), BRCA1(NM_007294.4):c.199G>T (p.D67Y) - BRCA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.199G>T r.(?) p.(Asp67Tyr) - Unknown - benign g.41258486C>A g.43106469C>A BRCA1(NM_007294.3):c.199G>T (p.D67Y, p.(Asp67Tyr)), BRCA1(NM_007294.4):c.199G>T (p.D67Y) - BRCA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.199G>T r.(?) p.(Asp67Tyr) - Unknown - benign g.41258486C>A g.43106469C>A - - BRCA1_000056 - - - rs80357102 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.199G>T r.(?) p.(Asp67Tyr) - Parent #1 - VUS g.41258486C>A g.43106469C>A - - BRCA1_000056 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.199G>T r.(?) p.(Asp67Tyr) - Parent #1 - NA g.41258486C>A - chr17_41258486_C_A - BRCA1_000056 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.199G>T r.(?) p.(Asp67Tyr) - Parent #1 - NA g.41258486C>A - chr17_41258486_C_A - BRCA1_000056 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 - 5/53461 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 - 5 BRIDGES consortium
-/. - c.199G>T r.(?) p.(Asp67Tyr) - Unknown - benign g.41258486C>A - BRCA1(NM_007294.3):c.199G>T (p.D67Y, p.(Asp67Tyr)), BRCA1(NM_007294.4):c.199G>T (p.D67Y) - BRCA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.199G>T r.(?) p.(Asp67Tyr) - Unknown - benign g.41258486C>A - BRCA1(NM_007294.3):c.199G>T (p.D67Y, p.(Asp67Tyr)), BRCA1(NM_007294.4):c.199G>T (p.D67Y) - BRCA1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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