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.

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/+ 2 c.61del r.(?) p.(Ile21Serfs*2) - Parent #1 - pathogenic (dominant) g.41276056del g.43124039del - - BRCA1_004570 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.61del r.(?) p.(Ile21Serfs*2) - Parent #1 - pathogenic g.41276056del g.43124039del - - BRCA1_004570 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast, familial CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Malaysia Asian - 0 - - 1 Johan den Dunnen
?/. - c.61del r.(?) p.(Ile21Serfs*2) - Parent #1 - unclassified g.41276056del g.43124039del - - BRCA1_004570 classified as class 3, 4 or 5 in 2/12850 targeted tests and 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 - 3 cases - 0 - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - 0 - - 3 UK Variant Sharing Initiative
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