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.

11 entries on 1 page. Showing entries 1 - 11.
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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     
+/. _1_17i c.-232_(5074+1_5075-1){0} r.? p.? - Parent #1 ACMG pathogenic (dominant) g.(41215969_41219624)_(41277500_?)del - del ex1-17 - BRCA1_001112 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat32 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/+ _1_17i c.-232_(5074+1_5075-1){0} r.0? p.0? - Unknown - pathogenic g.(41215969_41219624)_(41277500_?)del - - - BRCA1_001112 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ _1_17i c.-232_(5074+1_5075-1){0} r.0? p.0? - Unknown - pathogenic g.(41215969_41219624)_(41277500_?)del - - - BRCA1_001112 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/. _1_17i c.-232_(5074+1_5075-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41215969_41219624)_(41277500_?)del - c.-232-?_5074+?del - BRCA1_001112 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Czech Republic white - - - - 2 Johan den Dunnen
+/. _1_17i c.-232_(5074+1_5075-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41215969_41219624)_(41277500_?)del - c.-232-?_5074+?del - BRCA1_001112 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Germany unknown - - - - 2 Johan den Dunnen
+/. _1_17i c.-232_(5074+1_5075-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41215969_41219624)_(41277500_?)del - c.-232-?_5074+?del - BRCA1_001112 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Sweden white - - - - 2 Johan den Dunnen
+/. _1_17i c.-232_(5074+1_5075-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41215969_41219624)_(41277500_?)del - c.-232-?_5074+?del - BRCA1_001112 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Sweden unknown - - - - 3 Johan den Dunnen
+/. _1_17i c.-232_(5074+1_5075-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41215969_41219624)_(41277500_?)del - c.-232-?_5074+?del - BRCA1_001112 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 14 families F - United Kingdom (Great Britain) white - - - - 14 Johan den Dunnen
+/. _1_17i c.-232_(5074+1_5075-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41215969_41219624)_(41277500_?)del - c.-232-?_5074+?del - BRCA1_001112 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States African American - - - - 1 Johan den Dunnen
+/. _1_17i c.-232_(5074+1_5075-1){0} r.0? p.? - Unknown - pathogenic (dominant) g.(41215969_41219624)_(41277500_?)del - Exon1-17del - BRCA1_001112 - Journal: Gao 2020 as reported in: PubMed: Wu 2017, Journal: Wu 2017 - - Germline - 1 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Wu 2017, Journal: Wu 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. _1_17i c.-232_(5074+1_5075-1){0} r.0? p.0? - Parent #1 - VUS g.(41215969_41219624)_(41277500_?)del - - - BRCA1_001112 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
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