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.

24 entries on 1 page. Showing entries 1 - 24.
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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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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

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?/. 20 c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - VUS g.41209139A>G g.43057122A>G - - BRCA1_000420 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/. 20 c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - VUS g.41209139A>G g.43057122A>G - - BRCA1_000420 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/. 20 c.5207T>C r.(?) p.Val1736Ala - Unknown - NA g.41209139A>G g.43057122A>G V1736A - BRCA1_000420 transcription activation/PS/BA/BS; uncertain PubMed: Lee 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.5207T>C r.(?) p.Val1736Ala - Unknown - NA g.41209139A>G g.43057122A>G V1736A - BRCA1_000420 Structure-based prediction (crystallography etc); predicted deleterious PubMed: Abkevich 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.5207T>C r.(?) p.Val1736Ala - Unknown - NA g.41209139A>G g.43057122A>G V1736A - BRCA1_000420 evolutionary conservation analysis; predicted deleterious PubMed: Abkevich 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 20 c.5207T>C r.(?) p.Val1736Ala - Unknown - NA g.41209139A>G g.43057122A>G V1736A - BRCA1_000420 Transcription activation in human cells; as variant control PubMed: Carvalho 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 20 c.5207T>C r.(?) p.Val1736Ala - Unknown - NA g.41209139A>G g.43057122A>G V1736A - BRCA1_000420 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.5207T>C r.(?) p.Val1736Ala - Unknown - NA g.41209139A>G g.43057122A>G V1736A - BRCA1_000420 Structure-based prediction (crystallography etc); predicted deleterious PubMed: Mirkovic 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.5207T>C r.(?) p.Val1736Ala - Unknown - NA g.41209139A>G g.43057122A>G V1736A - BRCA1_000420 evolutionary conservation analysis; predicted deleterious PubMed: Pettigrew 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 20 c.5207T>C r.(?) p.Val1736Ala - Unknown - NA g.41209139A>G g.43057122A>G V1736A - BRCA1_000420 Thermodynamic stability prediction; moderately destabilizing PubMed: Rowling 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - VUS g.41209139A>G g.43057122A>G - - BRCA1_000420 classified as class 3, 4 or 5 in 11/12850 targeted tests and 10/25800 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 - 21 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 21 UK Variant Sharing Initiative
?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - NA g.41209139A>G - chr17_41209139_A_G - BRCA1_000420 not in 53461 controls; 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 - 1/60466 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 - 1 BRIDGES consortium
+?/. - c.5207T>C r.(?) p.(Val1736Ala) FA Maternal (confirmed) - likely pathogenic (dominant) g.41209139A>G g.43057122A>G 5209T>C (Val1736Ala) - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - FANC patient PubMed: Domchek 2013 4-generation family, several affected (cancer) F - United States - - - - - 1 Johan den Dunnen
+?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - likely pathogenic (dominant) g.41209139A>G g.43057122A>G - - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - BROVCA Fam1 PubMed: Domchek 2013 family, 2 female breast cancer, 4 ovarian cancer, 1 breast/ovarian cancer F - United States - - - - - 7 Johan den Dunnen
+?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - likely pathogenic (dominant) g.41209139A>G g.43057122A>G - - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - BROVCA Fam2 PubMed: Domchek 2013 family, 1 female breast cancer, 2 ovarian cancer F - United States - - - - - 3 Johan den Dunnen
+?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - likely pathogenic (dominant) g.41209139A>G g.43057122A>G - - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - BROVCA Fam3 PubMed: Domchek 2013 family, 2 female breast cancer, 2 ovarian cancer F - United States - - - - - 4 Johan den Dunnen
+?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - likely pathogenic (dominant) g.41209139A>G g.43057122A>G - - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - BROVCA Fam4 PubMed: Domchek 2013 family, 1 female breast cancer, 5 ovarian cancer, 1 breast/ovarian cancer F - United States - - - - - 7 Johan den Dunnen
+?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - likely pathogenic (dominant) g.41209139A>G g.43057122A>G - - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - BROVCA Fam5 PubMed: Domchek 2013 family, 2 female breast cancer, 1 ovarian cancer, 1 breast/ovarian cancer F - United States - - - - - 4 Johan den Dunnen
+?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - likely pathogenic (dominant) g.41209139A>G g.43057122A>G - - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - BROVCA Fam6 PubMed: Domchek 2013 family, 3 female breast cancer, 1 ovarian cancer, 1 breast/ovarian cancer F - United States - - - - - 5 Johan den Dunnen
+?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - likely pathogenic (dominant) g.41209139A>G g.43057122A>G - - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - BROVCA Fam7 PubMed: Domchek 2013 family, 2 female breast cancer, 1 ovarian cancer F - United States - - - - - 3 Johan den Dunnen
+?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - likely pathogenic (dominant) g.41209139A>G g.43057122A>G - - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - BROVCA Fam8 PubMed: Domchek 2013 family, 1 female breast cancer, 1 ovarian cancer F - United States - - - - - 2 Johan den Dunnen
+?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - likely pathogenic (dominant) g.41209139A>G g.43057122A>G - - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - BROVCA Fam9 PubMed: Domchek 2013 family, 1 ovarian cancer F - United States - - - - - 1 Johan den Dunnen
+?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - likely pathogenic (dominant) g.41209139A>G g.43057122A>G - - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - BROVCA Fam10 PubMed: Domchek 2013 family, 4 female breast cancer F - United States - - - - - 4 Johan den Dunnen
+?/. - c.5207T>C r.(?) p.(Val1736Ala) - Parent #1 - likely pathogenic (dominant) g.41209139A>G g.43057122A>G - - BRCA1_000420 - PubMed: Domchek 2013 - - Germline - - - - - DNA SEQ - - BROVCA Fam11 PubMed: Domchek 2013 family, 1 female breast cancer, 3 ovarian cancer F - United States - - - - - 4 Johan den Dunnen
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