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.

42 entries on 1 page. Showing entries 1 - 42.
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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     

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Disease     

ID_report     

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Owner     
-/- 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? - - - - - - 1 Maaike Vreeswijk
-/- 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
-/- 8 c.536A>G r.(=) p.(Tyr179Cys) - Parent #1 - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs56187033 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 8 c.536A>G r.(?) p.(Tyr179Cys) - Parent #1 - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Parent #1 - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 8 c.536A>G r.(?) p.Tyr179Cys - Unknown - NA g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 Homology directed recombination; predicted no impact on protein function PubMed: Guidugli 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.536A>G r.(?) p.Tyr179Cys - Unknown - NA g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 Random plasmid integration assay; predicted impact on protein function PubMed: Guidugli 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.536A>G r.(?) p.Tyr179Cys - Unknown - NA g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 - PubMed: Augello 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.536A>G r.(?) p.Tyr179Cys - Unknown - NA g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 Recombination rate; as variant control PubMed: Caligo 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.536A>G r.(?) p.Tyr179Cys - Unknown - NA g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 Clonogenic assay; as wildtype control PubMed: Caligo 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.536A>G r.(?) p.Tyr179Cys - Unknown - NA g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.536A>G r.(?) p.Tyr179Cys - Unknown - NA g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 co-occurrence with deleterious variant; predicted neutral PubMed: Judkins 2005a - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.536A>G r.(?) p.Tyr179Cys - Unknown - NA g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 co-occurrence with deleterious variant; predicted neutral PubMed: Judkins 2005b - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.536A>G r.(?) p.Tyr179Cys - Unknown - NA g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 Multifactorial likelihood-ratio model; predicted neutral PubMed: Osorio 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.536A>G r.(?) p.Tyr179Cys - Unknown - NA g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 Multifactorial likelihood-ratio model; predicted neutral PubMed: Spurdle 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.536A>G r.(?) p.Tyr179Cys - Unknown - NA g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 Multifactorial likelihood-ratio model; inconclusive PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - shared by Quest Diagnostics - rs56187033 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Parent #1 - VUS g.41251803T>C g.43099786T>C - - BRCA1_000090 - - - rs56187033 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Germany - - - - - 1 Andreas Laner
-/- 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown kConFab likely benign g.41251803T>C g.43099786T>C 655 A>G (Y179C) - BRCA1_000090 - kConFab variant classification: LCS - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
?/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Parent #1 - VUS g.41251803T>C g.43099786T>C 655A>G (Y179C) - BRCA1_000090 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 6 families (BRCA1/2 screening) - - Greece - - - - - 6 Florentia Fostira
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Parent #1 - benign g.41251803T>C g.43099786T>C 710C>T-Cys197Cys (C197C) - BRCA1_000090 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 9 families (BRCA1/2 screening) - - Greece - - - - - 9 Florentia Fostira
-/- 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown ENIGMA benign g.41251803T>C g.43099786T>C Y179C - BRCA1_000090 - - - rs56187033 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 8 c.536A>G r.(?) p.(Tyr179Cys) - Parent #1 - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 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 = 0.00000000000173 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - - - rs56187033 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1389 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - - - rs56187033 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1047 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - - - rs56187033 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1374 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C BRCA1(NM_007294.3):c.536A>G (p.Y179C, p.(Tyr179Cys), p.Tyr179Cys), BRCA1(NM_007294.4):c.536A>G (p.Y179C) - BRCA1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C BRCA1(NM_007294.3):c.536A>G (p.Y179C, p.(Tyr179Cys), p.Tyr179Cys), BRCA1(NM_007294.4):c.536A>G (p.Y179C) - BRCA1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C BRCA1(NM_007294.3):c.536A>G (p.Y179C, p.(Tyr179Cys), p.Tyr179Cys), BRCA1(NM_007294.4):c.536A>G (p.Y179C) - BRCA1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C BRCA1(NM_007294.3):c.536A>G (p.Y179C, p.(Tyr179Cys), p.Tyr179Cys), BRCA1(NM_007294.4):c.536A>G (p.Y179C) - BRCA1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - likely benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - PubMed: Dodova 2015 - - Germline - - - - - DNA SEQ - - BROVCA 26183948-cas PubMed: Dodova 2015 cases F - Bulgaria - - - - - 1 Johan den Dunnen
?/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - VUS g.41251803T>C g.43099786T>C 655A>G - BRCA1_000090 - PubMed: Jalkh 2012 - - Germline - - - - - DNA SEQ - - BROVCA 22713736-cas PubMed: Jalkh 2012 cases F - Lebanon - - - - - 2 Johan den Dunnen
+/. - c.536A>G r.(?) p.(Tyr179Cys) - Parent #1 - pathogenic (dominant) g.41251803T>C g.43099786T>C 655A>G - BRCA1_000090 - PubMed: Laitman 2011 - - Germline - - - - - DNA SEQ - - BROVCA 20960228-cas PubMed: Laitman 2011 cases F - Israel non-Jewish - - - - 2 Johan den Dunnen
+/. - c.536A>G r.(?) p.(Tyr179Cys) - Parent #1 - pathogenic (dominant) g.41251803T>C g.43099786T>C 655A>G - BRCA1_000090 - PubMed: Laitman 2011 - - Germline - - - - - DNA SEQ - - BROVCA 20960228-cas PubMed: Laitman 2011 cases F - Israel Muslem - - - - 1 Johan den Dunnen
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - - - rs56187033 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.536A>G r.(?) p.(Tyr179Cys) - Parent #1 - VUS g.41251803T>C g.43099786T>C - - BRCA1_000090 classified as class 1, 2, 3, 4 or 5 in 9/25800 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 - 9 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 9 UK Variant Sharing Initiative
?/. - c.536A>G r.(?) p.(Tyr179Cys) - Parent #1 - NA g.41251803T>C - chr17_41251803_T_C - BRCA1_000090 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 - 70/60466 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 - 70 BRIDGES consortium
?/. - c.536A>G r.(?) p.(Tyr179Cys) - Parent #1 - NA g.41251803T>C - chr17_41251803_T_C - BRCA1_000090 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 - 41/53461 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 - 41 BRIDGES consortium
-/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C - BRCA1(NM_007294.3):c.536A>G (p.Y179C, p.(Tyr179Cys), p.Tyr179Cys), BRCA1(NM_007294.4):c.536A>G (p.Y179C) - BRCA1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C - BRCA1(NM_007294.3):c.536A>G (p.Y179C, p.(Tyr179Cys), p.Tyr179Cys), BRCA1(NM_007294.4):c.536A>G (p.Y179C) - BRCA1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8 c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C g.43099786T>C - - BRCA1_000090 - Nodo Argentina Varioma, unpublished - rs56187033 Germline - - - - - DNA SEQ - - BROVCA BR3031 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.536A>G r.(?) p.(Tyr179Cys) - Unknown - benign g.41251803T>C - BRCA1(NM_007294.3):c.536A>G (p.Y179C, p.(Tyr179Cys), p.Tyr179Cys), BRCA1(NM_007294.4):c.536A>G (p.Y179C) - BRCA1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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