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.

35 entries on 1 page. Showing entries 1 - 35.
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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     

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VIP     

Data_av     

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Panel size     

Owner     
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 5i c.213-12A>G r.(spl?) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/. 5i c.213-12A>G r.(?) p.(?) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C 332-12A>G - BRCA1_000062 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 5i c.213-12A>G r.spl ? - Unknown - NA g.41256985T>C g.43104968T>C IVS5-12G>A - BRCA1_000062 mRNA analysis (RT-PCR); predicted deleterious PubMed: Hoffman 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.213-12A>G r.(=) p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 inclusion of 11 nucleotides, fs*; in combi. UV c.3487A>G; p.Arg1347Gly - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Germany - - - - - 1 Andreas Laner
+/. 5i c.213-12A>G r.(=) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - PubMed: Kast 2012 - - Germline - - - - - DNA DHPLC, SEQ - - MINAS - PubMed: Kast 2012 - F - (Germany) - - - - - 1 James Whitworth
+?/. 5i c.213-12A>G r.212_213ins213-12_213-1 p.Arg71Serfs*21 - Unknown - likely pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Somatic - - - - - RNA PCR FFPE - cancer - - - - - Netherlands - - - - - 1 Anne Jansen
+/. 5i c.213-12A>G r.spl? p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 5i c.213-12A>G r.(=) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C BRCA1(NM_007294.3):c.213-12A>G (p.(=)), BRCA1(NM_007294.4):c.213-12A>G - BRCA1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.213-12A>G r.(=) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C BRCA1(NM_007294.3):c.213-12A>G (p.(=)), BRCA1(NM_007294.4):c.213-12A>G - BRCA1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.213-12A>G r.(=) p.(=) - Unknown - pathogenic g.41256985T>C g.43104968T>C BRCA1(NM_007294.3):c.213-12A>G (p.(=)), BRCA1(NM_007294.4):c.213-12A>G - BRCA1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.213-12A>G r.spl? p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Austria white - - - - 1 Johan den Dunnen
+/. 5i c.213-12A>G r.spl? p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany white - - - - 1 Johan den Dunnen
+/. 5i c.213-12A>G r.spl? p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Germany unknown - - - - 4 Johan den Dunnen
+/. 5i c.213-12A>G r.spl? p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hungary white - - - - 1 Johan den Dunnen
+/. 5i c.213-12A>G r.spl? p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - 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
+/. 5i c.213-12A>G r.spl? p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Korea Asian - - - - 1 Johan den Dunnen
+/. 5i c.213-12A>G r.spl? p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Malaysia Asian - - - - 1 Johan den Dunnen
+/. 5i c.213-12A>G r.spl? p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - 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
+/. 5i c.213-12A>G r.spl? p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - 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
+/. 5i c.213-12A>G r.spl? p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States unknown - - - - 2 Johan den Dunnen
+/. 5i c.213-12A>G r.spl? p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C - - BRCA1_000062 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - United States white - - - - 5 Johan den Dunnen
+/. - c.213-12A>G r.(?) p.(=) - Parent #1 - pathogenic g.41256985T>C g.43104968T>C IVS5-12A>G - BRCA1_000062 - PubMed: Bhaskaran 2019 - (refs 41) - rs80358163 Germline - 2/118 cases - - - DNA SEQ - - cancer, breast BRCA1-var39 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 2 Johan den Dunnen
+/. 5i c.213-12A>G r.spl? p.(=) - Unknown - pathogenic (dominant) g.41256985T>C g.43104968T>C - - BRCA1_000062 - Journal: Gao 2020 as reported in: Yongtao Li 2014 - - Germline - 3 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: Yongtao Li 2014 breast/ovarian cancer families/patients - - China - - - - - 3 Xianqi Gao
+/. - c.213-12A>G r.(=) p.(=) - Unknown - pathogenic g.41256985T>C - BRCA1(NM_007294.3):c.213-12A>G (p.(=)), BRCA1(NM_007294.4):c.213-12A>G - BRCA1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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