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.

51 entries on 1 page. Showing entries 1 - 51.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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+/+ 9i c.594-2A>C r.spl p.? - Unknown - pathogenic g.41247941T>G g.43095924T>G - - BRCA1_000099 Classified by NLB-labs M Vreeswijk - - Germline yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 9i c.594-2A>C r.(spl?) p.? - Unknown - pathogenic g.41247941T>G g.43095924T>G - - BRCA1_000099 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 9i c.594-2A>C r.[548_670del, 594_670del] p.[Gly183_Lys223, Val199fs] - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 compared to controls splice variant del9/10 (0.3), del10 (0.7), rest hardly detectable PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ ? - cancer, breast Leiden-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 9i c.594-2A>C r.(spl?) p.? - Unknown - pathogenic g.41247941T>G g.43095924T>G - - BRCA1_000099 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 9i c.594-2A>C r.(?) p.(=) - Parent #1 - VUS g.41247941T>G g.43095924T>G IVS9-2A>C (713-2A>C) - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA ? - - cancer, breast French Consortium-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 3 unrelated cases - - France - - - - - 3 UMD
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
-?/. 9i c.594-2A>C r.= ? - Unknown - NA g.41247941T>G g.43095924T>G 713-2A>C - BRCA1_000099 Splicing reporter minigene; predicted neutral PubMed: Steffensen 2014 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 9i c.594-2A>C r.= p.? - Unknown - NA g.41247941T>G g.43095924T>G IVS9-2A>C - BRCA1_000099 mRNA analysis (RT-PCR); as variant control PubMed: Tesoriero 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/? 9i c.594-2A>C r.spl? p.? - Parent #1 kConFab VUS g.41247941T>G g.43095924T>G IVS 9-2 A>C - BRCA1_000099 - kConFab variant classification: UV - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
?/. 9i c.594-2A>C r.spl? p.? - Unknown - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P14-3411 - 1 Arjen Mensenkamp
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Embrace-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Embrace-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - Germany - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - Germany - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - Germany - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Germany - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Germany - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Germany - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Germany - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Germany - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - Germany - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA New Zealand Familial Breast Cancer Study-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - New Zealand - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Northshore-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - United States - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Northshore-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - United States - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Northshore-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - United States - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Adult Genetics Unit, South Australia-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Australia - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA BCFR-AU-CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - Australia - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA NIH-CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA MUV-CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Austria - - - - - 1 Johan den Dunnen
?/? 9i c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - ? Ambry Genetics PubMed: de la Hoya 2016, Journal: de la Hoya 2016 unavailability of relevant clinical information - - - - - - - - 13 Johan den Dunnen
+/. 9i c.594-2A>C r.[593_594ins594-21_594-3inscg, 594_670del] p.[Ser198delinsRTLSFPYR, Val199fs] - Unknown - NA g.41247941T>G g.43095924T>G - - BRCA1_000099 minigene splice expression cloning ex10 and ex8-ex12 in several cell lines PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/? 9i c.594-2A>C r.spl? p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G IVS 9-2 A>C - BRCA1_000099 probably identical to genomic variant #0000073592 PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - cancer, breast 27008870-? PubMed: de la Hoya 2016, Journal: de la Hoya 2016 breast-ovarian cancer family (kConFab); probably identical to individual #00045963 - - Australia;New Zealand - - - - - 1 Johan den Dunnen
?/. 9i c.594-2A>C r.(?) p.? - Unknown - VUS g.41247941T>G g.43095924T>G c.594-2A>C - BRCA1_000099 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
?/. 9i c.594-2A>C r.(?) p.? - Unknown - VUS g.41247941T>G g.43095924T>G c.594-2A>C - BRCA1_000099 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
-/. 9i c.594-2A>C r.(?) p.(=) - Unknown - benign g.41247941T>G g.43095924T>G - - BRCA1_000099 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
-/. 9i c.594-2A>C r.spl? p.? - Unknown - benign g.41247941T>G g.43095924T>G BRCA1(NM_007294.3):c.594-2A>C (p.?), BRCA1(NM_007294.4):c.594-2A>C - BRCA1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.594-2A>C r.spl? p.? - Unknown - likely benign g.41247941T>G g.43095924T>G BRCA1(NM_007294.3):c.594-2A>C (p.?), BRCA1(NM_007294.4):c.594-2A>C - BRCA1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.594-2A>C r.spl? p.? - Unknown - VUS g.41247941T>G g.43095924T>G BRCA1(NM_007294.3):c.594-2A>C (p.?), BRCA1(NM_007294.4):c.594-2A>C - BRCA1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.594-2A>C r.spl? p.? - Unknown - likely benign g.41247941T>G g.43095924T>G BRCA1(NM_007294.3):c.594-2A>C (p.?), BRCA1(NM_007294.4):c.594-2A>C - BRCA1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.594-2A>C r.spl? p.? - Unknown - likely benign g.41247941T>G g.43095924T>G BRCA1(NM_007294.3):c.594-2A>C (p.?), BRCA1(NM_007294.4):c.594-2A>C - BRCA1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9i c.594-2A>C r.(?) p.? - Unknown - VUS g.41247941T>G g.43095924T>G 594-2A>C - BRCA1_000099 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 324 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
?/. - c.594-2A>C r.spl? p.? - Unknown - VUS g.41247941T>G - BRCA1(NM_007294.3):c.594-2A>C (p.?), BRCA1(NM_007294.4):c.594-2A>C - BRCA1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.594-2A>C r.spl? p.? - Unknown - benign g.41247941T>G - BRCA1(NM_007294.3):c.594-2A>C (p.?), BRCA1(NM_007294.4):c.594-2A>C - BRCA1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.594-2A>C r.spl p.? - Parent #1 - VUS g.41247941T>G g.43095924T>G - - BRCA1_000099 classified as class 3, 4 or 5 in 4/12850 targeted tests and 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 - 9 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 9 UK Variant Sharing Initiative
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