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.

24 entries on 1 page. Showing entries 1 - 24.
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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     
+/+ 5 c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - pathogenic g.41258495A>G g.43106478A>G - - BRCA1_000532 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
-?/. 5 c.190T>C r.= p.Cys64Arg - Unknown - NA g.41258495A>G g.43106478A>G C64R - BRCA1_000532 RNA analysis; normal RNA splicing PubMed: Willems 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/+ 5 c.190T>C r.(?) p.(Cys64Arg) - Unknown - VUS g.41258495A>G g.43106478A>G - - BRCA1_000532 - - - rs80357064 Germline - - - - - DNA SEQ-NG - - cancer, breast - - - F - Malaysia Asian Chinese - - Yes - 1 Soo Hwang Teo
?/. 5 c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - VUS g.41258495A>G g.43106478A>G - - BRCA1_000532 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Unknown - pathogenic g.41258495A>G g.43106478A>G - - BRCA1_000532 - - - rs80357064 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0991 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Unknown - pathogenic g.41258495A>G g.43106478A>G - - BRCA1_000532 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - - - DNA SEQ-NG - - BROVCA 29176636-Pat PubMed: Arai 2018, Journal: Arai 2018 analysis 860 breast/ovarian cancer pedigrees - - Japan - - - - - 2 Johan den Dunnen
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - pathogenic g.41258495A>G g.43106478A>G - - BRCA1_000532 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil white - - - - 1 Johan den Dunnen
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - pathogenic g.41258495A>G g.43106478A>G - - BRCA1_000532 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Denmark white - - - - 1 Johan den Dunnen
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - pathogenic g.41258495A>G g.43106478A>G - - BRCA1_000532 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France unknown - - - - 3 Johan den Dunnen
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - pathogenic g.41258495A>G g.43106478A>G - - BRCA1_000532 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 43 families F - Italy white - - - - 43 Johan den Dunnen
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - pathogenic g.41258495A>G g.43106478A>G - - BRCA1_000532 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Poland white - - - - 1 Johan den Dunnen
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - pathogenic g.41258495A>G g.43106478A>G - - BRCA1_000532 - 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
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - pathogenic g.41258495A>G g.43106478A>G - - BRCA1_000532 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - pathogenic g.41258495A>G g.43106478A>G - - BRCA1_000532 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States white - - - - 2 Johan den Dunnen
+/. - c.190T>C r.(?) p.(Cys64Arg) - Unknown - pathogenic (dominant) g.41258495A>G g.43106478A>G 300T>C - BRCA1_000532 - PubMed: Al-Mulla 2009 - rs80357064 Germline - - - - - DNA SEQ - - BROVCA 19329713-cas PubMed: Al-Mulla 2009 cases F - Kuwait - - - - - 1 Johan den Dunnen
+/. - c.190T>C r.(?) p.(Cys64Arg) - Unknown - pathogenic (dominant) g.41258495A>G g.43106478A>G C64R - BRCA1_000532 - Journal: Laitman 2019 - rs80357064 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Greece - - - - - 1 Eitan Friedman
+/. - c.190T>C r.(?) p.(Cys64Arg) - Unknown - pathogenic (dominant) g.41258495A>G g.43106478A>G C64R - BRCA1_000532 - Journal: Laitman 2019 - rs80357064 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Italy - - - - - 1 Eitan Friedman
+/. - c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - pathogenic g.41258495A>G g.43106478A>G 190T>C - BRCA1_000532 - PubMed: Bhaskaran 2019 - (refs 89) - rs80357064 Germline - 1/916 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var29 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. - c.190T>C r.(?) p.(Cys64Arg) - Unknown - pathogenic g.41258495A>G g.43106478A>G BRCA1(NM_007294.4):c.190T>C (p.C64R) - BRCA1_000532 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.190T>C r.(?) p.(Cys64Arg) - Unknown - likely pathogenic (dominant) g.41258495A>G g.43106478A>G - - BRCA1_000532 - Journal: Gao 2020 as reported in: Wei 2017 - - Germline - 2 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: Wei 2017 breast/ovarian cancer families/patients - - China - - - - - 2 Xianqi Gao
?/. - c.190T>C r.(?) p.(Cys64Arg) - Parent #1 - VUS g.41258495A>G g.43106478A>G - - BRCA1_000532 classified as class 3, 4 or 5 in 1/12850 targeted tests and 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 - 2 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 2 UK Variant Sharing Initiative
+/. - c.190T>C r.(?) p.(Cys64Arg) - Unknown - pathogenic g.41258495A>G - BRCA1(NM_007294.4):c.190T>C (p.C64R) - BRCA1_000532 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Unknown - pathogenic (dominant) g.41258495A>G g.43106478A>G - - BRCA1_000532 - Nodo Argentina Varioma, unpublished - rs80357064 Germline - - - - - DNA SEQ - - BROVCA BR3088 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.190T>C r.(?) p.(Cys64Arg) - Unknown - pathogenic (dominant) g.41258495A>G g.43106478A>G - - BRCA1_000532 - Nodo Argentina Varioma, unpublished - rs80357064 Germline - - - - - DNA SEQ - - BROVCA BR3407 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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