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.

32 entries on 1 page. Showing entries 1 - 32.
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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     
+/+ 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Unknown - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - duplicatie exon 13 - BRCA1_001493 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Unknown - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - tandem duplicatie exon 13 - BRCA1_001493 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.(Val1454Glufs*7) - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - duplication exon 13 - BRCA1_001493 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.(Val1454Glufs*7) - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - duplication exon 13 - BRCA1_001493 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.(Val1454Glufs*7) - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - duplication exon 13 - BRCA1_001493 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.(Val1454Glufs*7) - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - duplication exon 13 - BRCA1_001493 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.(Val1454Glufs*7) - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - duplication exon 13 - BRCA1_001493 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.(Val1454Glufs*7) - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - duplication exon 13 - BRCA1_001493 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.spl? p.? - Unknown kConFab pathogenic g.(41228632_41234420)_(41234593_41242960)dup - Ex 13 Dup'n (STOP 1460) g44369_50449 dup 6kb - BRCA1_001493 - kConFab variant classification: P - - Germline - 13/1658 - - - DNA SEQ - - cancer, breast - - 13 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 13 kConFab - Heather Thorne
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada unknown - - - - 1 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 11 families F - Canada white - - - - 11 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Denmark white - - - - 3 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Finland white - - - - 3 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France white - - - - 1 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Germany white - - - - 4 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 15 families F - Germany unknown - - - - 15 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Hungary white - - - - 3 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Italy white - - - - 1 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Singapore Asian - - - - 1 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Spain white - - - - 1 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Sweden unknown - - - - 1 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 12 families F - Sweden white - - - - 12 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United Kingdom (Great Britain) unknown - - - - 2 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 77 families F - United Kingdom (Great Britain) white - - - - 77 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States unknown - - - - 3 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - pathogenic g.(41228632_41234420)_(41234593_41242960)dup - c.4186-?_4357+?dup - BRCA1_001493 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 29 families F - United States white - - - - 29 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Unknown - pathogenic (dominant) g.(41228632_41234420)_(41234593_41242960)dup - ex13 dup - BRCA1_001493 - PubMed: Al-Mulla 2009 - - Germline - - - - - DNA SEQ - - BROVCA 19329713-cas PubMed: Al-Mulla 2009 cases F - Kuwait - - - - - 14 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.spl p.? - Parent #1 - pathogenic (dominant) g.(41228632_41234420)_(41234593_41242960)dup - 4186_4358 - BRCA1_001493 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 ACMG pathogenic (dominant) g.(41228632_41234420)_(41234593_41242960)dup - dup ex13 - BRCA1_001493 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat42 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 ACMG pathogenic (dominant) g.(41228632_41234420)_(41234593_41242960)dup - dup ex13 - BRCA1_001493 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat44 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 - VUS g.(41228632_41234420)_(41234593_41242960)dup - - - BRCA1_001493 classified as class 3, 4 or 5 in 5/25800 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 - 5 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 5 UK Variant Sharing Initiative
+/. 12i_13i c.(4185+1_4186-1)_(4357+1_4358-1)dup r.? p.? - Parent #1 ACMG pathogenic (dominant) g.(41228632_41234420)_(41234593_41242960)dup - dup ex13 - BRCA1_001493 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat65 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
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