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.

25 entries on 1 page. Showing entries 1 - 25.
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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     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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Gender     

Consanguinity     

Country     

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Owner     
?/? 2 c.53T>C r.(?) p.(Met18Thr) - Unknown - VUS g.41276061A>G g.43124044A>G - - BRCA1_000011 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 2 c.53T>C r.(?) p.(Met18Thr) - Unknown - VUS g.41276061A>G g.43124044A>G - - BRCA1_000011 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 2 c.53T>C r.(?) p.(Met18Thr) - Unknown - VUS g.41276061A>G g.43124044A>G - - BRCA1_000011 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 2 c.53T>C r.(?) p.(Met18Thr) - Unknown - VUS g.41276061A>G g.43124044A>G - - BRCA1_000011 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 2 c.53T>C r.(?) p.(Met18Thr) - Unknown - VUS g.41276061A>G g.43124044A>G - - BRCA1_000011 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 2 c.53T>C r.(?) p.(Met18Thr) - Unknown - VUS g.41276061A>G g.43124044A>G - - BRCA1_000011 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 2 c.53T>C r.(?) p.(Met18Thr) - Unknown - VUS g.41276061A>G g.43124044A>G - - BRCA1_000011 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/. 2 c.53T>C r.(?) p.Met18Thr - Unknown - NA g.41276061A>G g.43124044A>G M18T - BRCA1_000011 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Easton 2007 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.53T>C r.(?) p.Met18Thr - Unknown - NA g.41276061A>G g.43124044A>G M18T - BRCA1_000011 evolutionary conservation analysis; predicted deleterious PubMed: Greenman 1998 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.53T>C r.(?) p.Met18Thr - Unknown - NA g.41276061A>G g.43124044A>G M18T - BRCA1_000011 - PubMed: Langston 1996 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.53T>C r.(?) p.Met18Thr - Unknown - NA g.41276061A>G g.43124044A>G M18T - BRCA1_000011 Co-segregation in families; predicted deleterious PubMed: Mohammadi 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.53T>C r.(?) p.Met18Thr - Unknown - NA g.41276061A>G g.43124044A>G M18T - BRCA1_000011 E3 Ub-ligase activity assay BRCA1/RING-BARD1; as variant control PubMed: Morris 2006 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.53T>C r.(?) p.Met18Thr - Unknown - NA g.41276061A>G g.43124044A>G M18T - BRCA1_000011 E3 Ub-ligase activity assay BRCA1/RING-BARD1; as wildtype control PubMed: Morris and Solomon 2004 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.53T>C r.(?) p.Met18Thr - Unknown - NA g.41276061A>G g.43124044A>G M18T - BRCA1_000011 evolutionary conservation analysis; predicted deleterious PubMed: Pettigrew 2005 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.53T>C r.(?) p.Met18Thr - Unknown - NA g.41276061A>G g.43124044A>G M18T - BRCA1_000011 Homology directed recombination; impact on protein function PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.53T>C r.(?) p.Met18Thr - Unknown - NA g.41276061A>G g.43124044A>G M18T - BRCA1_000011 protein binding ability BARD1; weak binding PubMed: Ransburgh 2010 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.53T>C r.(?) p.Met18Thr - Unknown - NA g.41276061A>G g.43124044A>G M18T - BRCA1_000011 E3 Ub-ligase activity assay; as wildtype control PubMed: Ruffner 2001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2 c.53T>C r.(?) p.Met18Thr - Unknown - NA g.41276061A>G g.43124044A>G M18T - BRCA1_000011 peptide binding ability BRCA1/RING-BARD1; as wildtype control PubMed: Sarkar and Magliery 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.53T>C r.(?) p.(Met18Thr) - Unknown - VUS g.41276061A>G g.43124044A>G - - BRCA1_000011 - - - - Germline - - - 0 - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium white - 0 - - 1 Kathleen Claes
?/. 2 c.53T>C r.(?) p.(Met18Thr) - Unknown - VUS g.41276061A>G g.43124044A>G - - BRCA1_000011 - - - - Germline - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Arjen Mensenkamp
+?/. 2 c.53T>C r.(?) p.(Met18Thr) - Unknown - likely pathogenic g.41276061A>G g.43124044A>G BRCA1(NM_007294.3):c.53T>C (p.M18T), BRCA1(NM_007300.3):c.53T>C (p.M18T) - BRCA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.53T>C r.(?) p.(Met18Thr) - Unknown - pathogenic g.41276061A>G g.43124044A>G BRCA1(NM_007294.3):c.53T>C (p.M18T), BRCA1(NM_007300.3):c.53T>C (p.M18T) - BRCA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.53T>C r.(?) p.(Met18Thr) - Unknown - pathogenic g.41276061A>G g.43124044A>G BRCA1(NM_007294.3):c.53T>C (p.M18T), BRCA1(NM_007300.3):c.53T>C (p.M18T) - BRCA1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.53T>C r.(?) p.(Met18Thr) - Parent #1 - NA g.41276061A>G - chr17_41276061_A_G - BRCA1_000011 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 - 4/60466 cases - 0 - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - 0 bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
?/. - c.53T>C r.(?) p.(Met18Thr) - Parent #1 - unclassified g.41276061A>G g.43124044A>G - - BRCA1_000011 classified as class 3, 4 or 5 in 11/12850 targeted tests and 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 - 18 cases - 0 - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - 0 - - 18 UK Variant Sharing Initiative
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