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.

23 entries on 1 page. Showing entries 1 - 23.
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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     

Origin     

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Frequency     

Re-site     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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Owner     
?/- 9 c.557C>A r.(?) p.(Ser186Tyr) - Unknown - VUS g.41249297G>T g.43097280G>T - - BRCA1_000094 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
-/- 9 c.557C>A r.(?) p.(Ser186Tyr) - Unknown - benign g.41249297G>T g.43097280G>T - - BRCA1_000094 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Maaike Vreeswijk
?/- 9 c.557C>A r.(?) p.(Ser186Tyr) - Unknown - VUS g.41249297G>T g.43097280G>T - - BRCA1_000094 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
-/- 9 c.557C>A r.(=) p.(Ser186Tyr) - Unknown - benign g.41249297G>T g.43097280G>T - - BRCA1_000094 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs55688530 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/. 9 c.557C>A r.(?) p.(Ser186Tyr) - Parent #1 - VUS g.41249297G>T g.43097280G>T - - BRCA1_000094 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 9 c.557C>A r.(?) p.(Ser186Tyr) - Unknown - VUS g.41249297G>T g.43097280G>T - - BRCA1_000094 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
-/. 9 c.557C>A r.(?) p.Ser186Tyr - Unknown - NA g.41249297G>T g.43097280G>T S186Y - BRCA1_000094 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.557C>A r.(?) p.Ser186Tyr - Unknown - NA g.41249297G>T g.43097280G>T S186Y - BRCA1_000094 - PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.557C>A r.(?) p.Ser186Tyr - Unknown - NA g.41249297G>T g.43097280G>T S186Y - BRCA1_000094 Multifactorial likelihood-ratio model; inconclusive PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.557C>A r.spl p.Ser186Tyr - Unknown - NA g.41249297G>T g.43097280G>T c.557C>A - BRCA1_000094 splicing reporter minigene/patient RNA analysis; slight enhancement del ex9-10 PubMed: Théry 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 9 c.557C>A r.(?) p.(Ser186Tyr) - Unknown - benign g.41249297G>T g.43097280G>T - - BRCA1_000094 - shared by Quest Diagnostics - rs55688530 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 9 c.557C>A r.(?) p.(Ser186Tyr) - Parent #1 - benign g.41249297G>T g.43097280G>T - - BRCA1_000094 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
-/- 9 c.557C>A r.(?) p.(Ser186Tyr) - Parent #1 - benign g.41249297G>T g.43097280G>T - - BRCA1_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 = 0.00000000000782. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.01423 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 9 c.557C>A r.(?) p.(Ser186Tyr) - Unknown - benign g.41249297G>T g.43097280G>T BRCA1(NM_007294.3):c.557C>A (p.S186Y, p.(Ser186Tyr)), BRCA1(NM_007294.4):c.557C>A (p.S186Y) - BRCA1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 9 c.557C>A r.(?) p.(Ser186Tyr) - Unknown - benign g.41249297G>T g.43097280G>T BRCA1(NM_007294.3):c.557C>A (p.S186Y, p.(Ser186Tyr)), BRCA1(NM_007294.4):c.557C>A (p.S186Y) - BRCA1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 9 c.557C>A r.(?) p.(Ser186Tyr) - Unknown - benign g.41249297G>T g.43097280G>T BRCA1(NM_007294.3):c.557C>A (p.S186Y, p.(Ser186Tyr)), BRCA1(NM_007294.4):c.557C>A (p.S186Y) - BRCA1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 9 c.557C>A r.(?) p.(Ser186Tyr) - Unknown - benign g.41249297G>T g.43097280G>T BRCA1(NM_007294.3):c.557C>A (p.S186Y, p.(Ser186Tyr)), BRCA1(NM_007294.4):c.557C>A (p.S186Y) - BRCA1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.557C>A r.(?) p.(Ser186Tyr) - Unknown - VUS g.41249297G>T g.43097280G>T 676C>A - BRCA1_000094 - PubMed: Laitman 2011 - - Germline - - - - - DNA SEQ - - BROVCA 20960228-cas PubMed: Laitman 2011 cases F - Israel - - - - - 1 Johan den Dunnen
-/. - c.557C>A r.(?) p.(Ser186Tyr) - Unknown - benign g.41249297G>T g.43097280G>T BRCA1(NM_007294.3):c.557C>A (p.S186Y, p.(Ser186Tyr)), BRCA1(NM_007294.4):c.557C>A (p.S186Y) - BRCA1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.557C>A r.(?) p.(Ser186Tyr) - Parent #1 - VUS g.41249297G>T g.43097280G>T - - BRCA1_000094 classified as class 1, 2, 3, 4 or 5 in 7/25800 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 - 7 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 7 UK Variant Sharing Initiative
?/. - c.557C>A r.(?) p.(Ser186Tyr) - Parent #1 - NA g.41249297G>T - chr17_41249297_G_T - BRCA1_000094 not in 60466 cases; 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.557C>A r.(?) p.(Ser186Tyr) - Unknown - likely benign g.41249297G>T - BRCA1(NM_007294.3):c.557C>A (p.S186Y, p.(Ser186Tyr)), BRCA1(NM_007294.4):c.557C>A (p.S186Y) - BRCA1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.557C>A r.(?) p.(Ser186Tyr) - Unknown - benign g.41249297G>T - BRCA1(NM_007294.3):c.557C>A (p.S186Y, p.(Ser186Tyr)), BRCA1(NM_007294.4):c.557C>A (p.S186Y) - BRCA1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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