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.

29 entries on 1 page. Showing entries 1 - 29.
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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     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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VIP     

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Owner     
+/. _1_2i c.-232_(80+1_81-1){0} r.? p.? - Parent #1 ACMG pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - del ex1-2 - BRCA1_001184 - PubMed: Evans 2022 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat33 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.? p.? - Parent #1 ACMG pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - del ex1-2 - BRCA1_001184 - PubMed: Evans 2022 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat41 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/+ _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Unknown - pathogenic g.(41267797_41276033)_(41277500_?)del - -?_80+?del - BRCA1_001184 - - - - Unknown ? - - 0 - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Unknown - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - - - - Unknown - - - 0 - DNA MLPA - - cancer, breast - - - F - Netherlands - - 0 - - 1 Rien Blok
+/+ _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - deletion exons 1-2 - BRCA1_001184 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Juul Wijnen
+/+ _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Unknown - pathogenic g.(41267797_41276033)_(41277500_?)del - -?_80+?del - BRCA1_001184 - - - - Unknown - - - 0 - DNA MLPA - - cancer, breast - - - - - Belgium - - 0 - - 1 Kathleen Claes
+/+ _1_2i c.-232_(80+1_81-1){0} r.spl? p.? - Unknown kConFab pathogenic g.(41267797_41276033)_(41277500_?)del - del exons 1_2 - BRCA1_001184 - kConFab variant classification: P - - Germline - 2/1658 - 0 - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - 2 kConFab - Heather Thorne
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Austria white - 0 - - 1 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Czech Republic white - 0 - - 1 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 4 families F - France white - 0 - - 4 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 8 families F - France unknown - 0 - - 8 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 24 families F - Germany unknown - 0 - - 24 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 9 families F - Italy white - 0 - - 9 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 4 families F - Spain white - 0 - - 4 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 2 families F - Sweden white - 0 - - 2 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) unknown - 0 - - 1 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 24 families F - United Kingdom (Great Britain) white - 0 - - 24 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States African American - 0 - - 1 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States Asian - 0 - - 1 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 3 families F - United States Hispanic - 0 - - 3 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 5 families F - United States unknown - 0 - - 5 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 13 families F - United States white - 0 - - 13 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Unknown - pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - ex1A-2 del - BRCA1_001184 - PubMed: Al-Mulla 2009 - - Germline - - - 0 - DNA SEQ - - BROVCA 19329713-cas PubMed: Al-Mulla 2009 cases F - Kuwait - - 0 - - 2 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Unknown - pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - ex1-2 del - BRCA1_001184 - PubMed: Stegel 2011 - - Germline - - - 0 - DNA SEQ - - BROVCA 21232165-cas PubMed: Stegel 2011 families F - Slovenia - - 0 - - 1 Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Unknown - pathogenic g.(41267797_41276033)_(41277500_?)del - c.(?_-4600)_(249+1_250-1)del - BRCA1_001184 - PubMed: Fostira 2020 - - Germline - - - 0 - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - 0 - - 1 Florentia Fostira
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - 0_80 - BRCA1_001184 - PubMed: Lecarpentier 2012 - - Germline - - - 0 - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - 0 - - 2 Johan den Dunnen
?/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - unclassified g.(41267797_41276033)_(41277500_?)del - - - BRCA1_001184 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
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - LRG_292:g.(?_ 93968)del - BRCA1_001184 - Van Der Merwe 2020, submitted - - Germline - 1/744 cases - 0 - DNA MLPA - - cancer, breast 2074/18 Van Der Merwe 2020, submitted analysis 744 individuals with breast/ovarian cancer - - Zimbabwe African - 0 - - 1 Nerina Chrisna van der Merwe
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - Parent #1 - pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - LRG_292:g.(?_ 93968)del - BRCA1_001184 - Van Der Merwe 2020, submitted - - Germline - 1/744 cases - 0 - DNA MLPA - - cancer, breast 13/08 Van Der Merwe 2020, submitted analysis 744 individuals with breast/ovarian cancer - - South Africa white; Germany - 0 - - 1 Nerina Chrisna van der Merwe
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