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.

33 entries on 1 page. Showing entries 1 - 33.
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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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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

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Disease     

ID_report     

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Owner     
?/? 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
?/? 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/. 19 c.5158A>G r.(?) p.(Thr1720Ala) - Parent #1 - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/. 19 c.5158A>G r.(?) p.(Thr1720Ala) - Parent #1 - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/. 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/. 19 c.5158A>G r.(?) p.Thr1720Ala - Unknown - NA g.41215385T>C g.43063368T>C T1720A - BRCA1_000409 transcription activation/PS/BA/BS; no functional effect PubMed: Lee 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.5158A>G r.(?) p.Thr1720Ala - Unknown - NA g.41215385T>C g.43063368T>C T1720A - BRCA1_000409 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.5158A>G r.(?) p.Thr1720Ala - Unknown - NA g.41215385T>C g.43063368T>C T1720A - BRCA1_000409 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.5158A>G r.(?) p.Thr1720Ala - Unknown - NA g.41215385T>C g.43063368T>C T1720A - BRCA1_000409 Peptide binding ability; as wildtype control PubMed: Glover 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.5158A>G r.(?) p.Thr1720Ala - Unknown - NA g.41215385T>C g.43063368T>C T1720A - BRCA1_000409 - PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.5158A>G r.(?) p.Thr1720Ala - Unknown - NA g.41215385T>C g.43063368T>C T1720A - BRCA1_000409 Structure-based prediction (crystallography etc); predicted neutral PubMed: Mirkovic 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 19 c.5158A>G r.(?) p.Thr1720Ala - Unknown - NA g.41215385T>C g.43063368T>C T1720A - BRCA1_000409 Transcription activation in yeast (GAL4-fusions); inconclusive PubMed: Phelan 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.5158A>G r.(?) p.Thr1720Ala - Unknown - NA g.41215385T>C g.43063368T>C T1720A - BRCA1_000409 Proteolytic degradation; as wildtype control PubMed: Williams 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.5158A>G r.(?) p.Thr1720Ala - Unknown - NA g.41215385T>C g.43063368T>C T1720A - BRCA1_000409 Bayesian statistics; predicted neutral PubMed: Williams 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.5158A>G r.(?) p.Thr1720Ala - Unknown - NA g.41215385T>C g.43063368T>C T1720A - BRCA1_000409 Peptide binding ability; as wildtype control PubMed: Williams 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - benign g.41215385T>C g.43063368T>C - - BRCA1_000409 - shared by Quest Diagnostics - rs56195342 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/. 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown ENIGMA benign g.41215385T>C g.43063368T>C T1720A - BRCA1_000409 - - - rs56195342 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 19 c.5158A>G r.(?) p.(Thr1720Ala) - Parent #1 - benign g.41215385T>C g.43063368T>C - - BRCA1_000409 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 = 0.000000000000344 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - benign g.41215385T>C g.43063368T>C BRCA1(NM_007294.3):c.5158A>G (p.T1720A), BRCA1(NM_007294.4):c.5158A>G (p.T1720A) - BRCA1_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - benign g.41215385T>C g.43063368T>C BRCA1(NM_007294.3):c.5158A>G (p.T1720A), BRCA1(NM_007294.4):c.5158A>G (p.T1720A) - BRCA1_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - benign g.41215385T>C g.43063368T>C BRCA1(NM_007294.3):c.5158A>G (p.T1720A), BRCA1(NM_007294.4):c.5158A>G (p.T1720A) - BRCA1_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5158A>G r.(?) p.(Thr1720Ala) - Parent #1 - VUS g.41215385T>C g.43063368T>C - - BRCA1_000409 classified as class 3, 4 or 5 in 1/25800 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 - 1 case - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 1 UK Variant Sharing Initiative
-/. - c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - benign g.41215385T>C - BRCA1(NM_007294.3):c.5158A>G (p.T1720A), BRCA1(NM_007294.4):c.5158A>G (p.T1720A) - BRCA1_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5158A>G r.(?) p.(Thr1720Ala) - Parent #1 - NA g.41215385T>C - chr17_41215385_T_C - BRCA1_000409 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.5158A>G r.(?) p.(Thr1720Ala) - Parent #1 - NA g.41215385T>C - chr17_41215385_T_C - BRCA1_000409 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 - 9/53461 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 - 9 BRIDGES consortium
-/. - c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - benign g.41215385T>C - BRCA1(NM_007294.3):c.5158A>G (p.T1720A), BRCA1(NM_007294.4):c.5158A>G (p.T1720A) - BRCA1_000409 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 19 c.5158A>G r.(?) p.(Thr1720Ala) - Unknown - benign g.41215385T>C g.43063368T>C - - BRCA1_000409 - Nodo Argentina Varioma, unpublished - rs56195342 Germline - - - - - DNA SEQ - - BROVCA BR3031 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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