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.

22 entries on 1 page. Showing entries 1 - 22.
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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     

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VIP     

Data_av     

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Panel size     

Owner     
+/+ 2 c.34C>T r.(?) p.(Gln12*) - Unknown - pathogenic g.41276080G>A g.43124063G>A - - BRCA1_001515 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 2 c.34C>T r.(?) p.(Gln12*) - Unknown - pathogenic g.41276080G>A g.43124063G>A - - BRCA1_001515 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 2 c.34C>T r.(?) p.(Gln12*) - Unknown kConFab pathogenic g.41276080G>A g.43124063G>A 153 C>T (Q12X) - BRCA1_001515 - kConFab variant classification: P - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
+/+ 2 c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic (dominant) g.41276080G>A g.43124063G>A - - BRCA1_001515 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.34C>T r.(?) p.(Gln12Ter) - Unknown - pathogenic g.41276080G>A g.43124063G>A BRCA1(NM_007294.3):c.34C>T (p.Gln12*), BRCA1(NM_007294.4):c.34C>T (p.Q12*) - BRCA1_001515 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic g.41276080G>A g.43124063G>A - - BRCA1_001515 - 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
+/. 2 c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic g.41276080G>A g.43124063G>A - - BRCA1_001515 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - France unknown - - - - 4 Johan den Dunnen
+/. 2 c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic g.41276080G>A g.43124063G>A - - BRCA1_001515 - 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
+/. 2 c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic g.41276080G>A g.43124063G>A - - BRCA1_001515 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hong Kong Asian - - - - 1 Johan den Dunnen
+/. 2 c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic g.41276080G>A g.43124063G>A - - BRCA1_001515 - 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
+/. 2 c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic g.41276080G>A g.43124063G>A - - BRCA1_001515 - 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
+/. 2 c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic g.41276080G>A g.43124063G>A - - BRCA1_001515 - 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
+/. 2 c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic g.41276080G>A g.43124063G>A - - BRCA1_001515 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Asian - - - - 1 Johan den Dunnen
+/. 2 c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic g.41276080G>A g.43124063G>A - - BRCA1_001515 - 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.34C>T r.(?) p.(Gln12*) - Unknown - pathogenic (dominant) g.41276080G>A g.43124063G>A - - BRCA1_001515 - PubMed: El Saghir 2015, Journal: Laitman 2019 - rs80357134 Germline - - - - - DNA SEQ - - BROVCA 25777348-cas PubMed: El Saghir 2015, Journal: Laitman 2019 family F - Lebanon - - - - - 1 Eitan Friedman
+/. - c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic g.41276080G>A g.43124063G>A 34C>T, Gln12stop - BRCA1_001515 - PubMed: Bhaskaran 2019 - (refs 71, 79, 87) - rs80357134 Germline - 3/2992 cases - - - DNA SEQ-NG, SEQ - - cancer, breast BRCA1-var7 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 3 Johan den Dunnen
+/. - c.34C>T r.(?) p.(Gln12*) - Parent #1 - pathogenic (dominant) g.41276080G>A g.43124063G>A - - BRCA1_001515 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - - - - 2 Johan den Dunnen
+/. 2 c.34C>T r.(?) p.(Gln12*) - Unknown - pathogenic (dominant) g.41276080G>A g.43124063G>A - - BRCA1_001515 - Journal: Gao 2020 as reported in: PubMed: Lang 2017, Journal: Lang 2017, Wen Wang 2017, Xiaodan Liu 2015 - - Germline - 3 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Lang 2017, Journal: Lang 2017, Wen Wang 2017, Xiaodan Liu 2015 breast/ovarian cancer families/patients - - China - - - - - 3 Xianqi Gao
?/. - c.34C>T r.(?) p.(Gln12*) - Parent #1 - VUS g.41276080G>A g.43124063G>A - - BRCA1_001515 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.34C>T r.(?) p.(Gln12Ter) - Unknown - pathogenic g.41276080G>A g.43124063G>A BRCA1(NM_007294.3):c.34C>T (p.Gln12*), BRCA1(NM_007294.4):c.34C>T (p.Q12*) - BRCA1_001515 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.34C>T r.(?) p.(Gln12Ter) - Unknown - pathogenic g.41276080G>A - BRCA1(NM_007294.3):c.34C>T (p.Gln12*), BRCA1(NM_007294.4):c.34C>T (p.Q12*) - BRCA1_001515 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.34C>T r.(?) p.(Gln12Ter) - Parent #1 ACMG pathogenic (dominant) g.41276080G>A g.43124063G>A - - BRCA1_001515 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat2 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
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