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.

13 entries on 1 page. Showing entries 1 - 13.
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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)     

Published as     

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     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 2i c.81-13C>G r.(spl?) p.(?) - Unknown - VUS g.41267809G>C g.43115792G>C - - BRCA1_000020 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 2i c.81-13C>G r.(spl?) p.(?) - Unknown - VUS g.41267809G>C g.43115792G>C - - BRCA1_000020 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
-/. 2i c.81-13C>G r.= p.(=) - Parent #1 - benign g.41267809G>C g.43115792G>C 200-13C>G - BRCA1_000020 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
-/. 2i c.81-13C>G r.(=) ? - Unknown - NA g.41267809G>C g.43115792G>C IVS2-13C>G - BRCA1_000020 Multifactorial likelihood-ratio model; predicted neutral PubMed: Easton 2007 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2i c.81-13C>G r.(=) p.(=) - Unknown - benign g.41267809G>C g.43115792G>C - - BRCA1_000020 - shared by Quest Diagnostics - rs56328013 Unknown - - - 0 - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - 0 - - 1 Quest Diagnostics
?/. 2i c.81-13C>G r.(=) p.(=) - Parent #1 - VUS g.41267809G>C g.43115792G>C - - BRCA1_000020 - - - - Unknown - - - 0 - DNA SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Rien Blok
-/- 2i c.81-13C>G r.(?) p.(=) - Parent #1 - benign g.41267809G>C g.43115792G>C - - BRCA1_000020 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 = 0.000301. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.0122 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2i c.81-13C>G r.(?) p.(=) - Unknown - benign g.41267809G>C g.43115792G>C - - BRCA1_000020 - - - rs56328013 Germline - 1/1900 cases - 0 - DNA SEQ - - cancer, breast BR0593 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/. 2i c.81-13C>G r.(?) p.(=) - Unknown - VUS g.41267809G>C g.43115792G>C - - BRCA1_000020 - - - - Germline - - - 0 - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - 0 - - 1 Hans Gille
-/. 2i c.81-13C>G r.(=) p.(=) - Unknown - benign g.41267809G>C g.43115792G>C BRCA1(NM_007294.3):c.81-13C>G - BRCA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 2i c.81-13C>G r.(=) p.(=) - Unknown - benign g.41267809G>C g.43115792G>C BRCA1(NM_007294.3):c.81-13C>G - BRCA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.81-13C>G r.(=) p.(=) - Unknown - benign g.41267809G>C g.43115792G>C BRCA1(NM_007294.3):c.81-13C>G - BRCA1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.81-13C>G r.(?) p.(=) - Parent #1 - unclassified g.41267809G>C g.43115792G>C - - BRCA1_000020 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 - 0 - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - 0 - - 1 UK Variant Sharing Initiative
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