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.

29 entries on 1 page. Showing entries 1 - 29.
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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     

Segregation     

Frequency     

Re-site     

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Methylation     

Template     

Technique     

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Disease     

ID_report     

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Owner     
-/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Unknown - benign g.41244952G>A g.43092935G>A - - BRCA1_000212 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
-/- 11 c.2596C>T r.(=) p.(Arg866Cys) - Unknown - benign g.41244952G>A g.43092935G>A - - BRCA1_000212 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs41286300 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Parent #1 - VUS g.41244952G>A g.43092935G>A - - BRCA1_000212 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/. 11 c.2596C>T r.(?) p.(Arg866Cys) - Parent #1 - VUS g.41244952G>A g.43092935G>A - - BRCA1_000212 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
-/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Parent #1 - benign g.41244952G>A g.43092935G>A - - BRCA1_000212 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Parent #1 - benign g.41244952G>A g.43092935G>A - - BRCA1_000212 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Parent #1 - benign g.41244952G>A g.43092935G>A - - BRCA1_000212 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/. 11 c.2596C>T r.(?) p.Arg866Cys - Unknown - NA g.41244952G>A g.43092935G>A R866C - BRCA1_000212 evolutionary conservation analysis; predicted deleterious PubMed: Abkevich 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2596C>T r.(?) p.Arg866Cys - Unknown - NA g.41244952G>A g.43092935G>A R866C - BRCA1_000212 - PubMed: Arnold 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2596C>T r.(?) p.Arg866Cys - Unknown - NA g.41244952G>A g.43092935G>A R866C - BRCA1_000212 evolutionary conservation analysis; predicted deleterious PubMed: Burk-Herrick 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2596C>T r.(?) p.Arg866Cys - Unknown - NA g.41244952G>A g.43092935G>A R866C - BRCA1_000212 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2596C>T r.(?) p.Arg866Cys - Unknown - NA g.41244952G>A g.43092935G>A R866C - BRCA1_000212 evolutionary conservation analysis; predicted deleterious PubMed: Fleming 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2596C>T r.(?) p.Arg866Cys - Unknown - NA g.41244952G>A g.43092935G>A R866C - BRCA1_000212 evolutionary conservation analysis; predicted deleterious PubMed: Judkins 2005a - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2596C>T r.(?) p.Arg866Cys - Unknown - NA g.41244952G>A g.43092935G>A R866C - BRCA1_000212 co-occurrence with deleterious variant; predicted neutral PubMed: Judkins 2005a - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2596C>T r.(?) p.Arg866Cys - Unknown - NA g.41244952G>A g.43092935G>A R866C - BRCA1_000212 evolutionary conservation analysis; predicted deleterious PubMed: Ramirez 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Unknown kConFab VUS g.41244952G>A g.43092935G>A 2715 C>T (R866C) - BRCA1_000212 - kConFab variant classification: UV - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
-/. 11 c.2596C>T r.(?) p.(Arg866Cys) - Unknown - benign g.41244952G>A g.43092935G>A - - BRCA1_000212 - - - - Germline - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - - - - 1 Kathleen Claes
-/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Parent #1 - benign g.41244952G>A g.43092935G>A - - BRCA1_000212 - - - rs41286300 Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
-/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Parent #1 - benign g.41244952G>A g.43092935G>A - - BRCA1_000212 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 = 0.0000000000000163 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Unknown - benign g.41244952G>A g.43092935G>A - - BRCA1_000212 - - - rs41286300 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0863 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Unknown - benign g.41244952G>A g.43092935G>A - - BRCA1_000212 - - - rs41286300 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0796 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Unknown - benign g.41244952G>A g.43092935G>A BRCA1(NM_007294.3):c.2596C>T (p.R866C, p.(Arg866Cys)), BRCA1(NM_007294.4):c.2596C>T (p.R866C), BRCA1(NM_007300.4):c.2596C>T (p.R866C) - BRCA1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Unknown - benign g.41244952G>A g.43092935G>A BRCA1(NM_007294.3):c.2596C>T (p.R866C, p.(Arg866Cys)), BRCA1(NM_007294.4):c.2596C>T (p.R866C), BRCA1(NM_007300.4):c.2596C>T (p.R866C) - BRCA1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.2596C>T r.(?) p.(Arg866Cys) - Unknown - benign g.41244952G>A g.43092935G>A BRCA1(NM_007294.3):c.2596C>T (p.R866C, p.(Arg866Cys)), BRCA1(NM_007294.4):c.2596C>T (p.R866C), BRCA1(NM_007300.4):c.2596C>T (p.R866C) - BRCA1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2596C>T r.(?) p.(Arg866Cys) - Parent #1 - NA g.41244952G>A - chr17_41244952_G_A - BRCA1_000212 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 - 28/60466 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 - 28 BRIDGES consortium
?/. - c.2596C>T r.(?) p.(Arg866Cys) - Parent #1 - NA g.41244952G>A - chr17_41244952_G_A - BRCA1_000212 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 - 16/53461 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 - 16 BRIDGES consortium
-/. - c.2596C>T r.(?) p.(Arg866Cys) - Parent #1 - benign g.41244952G>A g.43092935G>A - - BRCA1_000212 - PubMed: Dong 2021 - rs41286300 Germline - 2/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1F/1M F;M - China - - - - - 2 Johan den Dunnen
-/. - c.2596C>T r.(?) p.(Arg866Cys) - Unknown - benign g.41244952G>A - BRCA1(NM_007294.3):c.2596C>T (p.R866C, p.(Arg866Cys)), BRCA1(NM_007294.4):c.2596C>T (p.R866C), BRCA1(NM_007300.4):c.2596C>T (p.R866C) - BRCA1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2596C>T r.(?) p.(Arg866Cys) - Unknown - benign g.41244952G>A - BRCA1(NM_007294.3):c.2596C>T (p.R866C, p.(Arg866Cys)), BRCA1(NM_007294.4):c.2596C>T (p.R866C), BRCA1(NM_007300.4):c.2596C>T (p.R866C) - BRCA1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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