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.

43 entries on 1 page. Showing entries 1 - 43.
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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     
+/+ 11 c.843_846del r.(?) p.(Ser282fs) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.843_846del r.(?) p.(Ser282fs) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.843_846del r.(?) p.(Ser282fs) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.843_846del r.(?) p.(Ser282fs) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.843_846del r.(?) p.(Ser282fs) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.843_846del r.(?) p.(Ser282fs) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.843_846del r.(?) p.(Ser282fs) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.843_846del r.(?) p.(Ser282fs) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/+ 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic (dominant) g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.843_846del r.(?) p.(Ser282TyrfsTer15) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del BRCA1(NM_007294.3):c.843_846delCTCA (p.S282Yfs*15), BRCA1(NM_007294.3):c.843_846delCTCA (p.Ser282Tyrfs*15), BRCA1(NM_007294.4):c.843_846delCTCA (p...) - BRCA1_001480 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.843_846del r.(?) p.(Ser282TyrfsTer15) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del BRCA1(NM_007294.3):c.843_846delCTCA (p.S282Yfs*15), BRCA1(NM_007294.3):c.843_846delCTCA (p.Ser282Tyrfs*15), BRCA1(NM_007294.4):c.843_846delCTCA (p...) - BRCA1_001480 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.843_846del r.(?) p.(Ser282TyrfsTer15) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del BRCA1(NM_007294.3):c.843_846delCTCA (p.S282Yfs*15), BRCA1(NM_007294.3):c.843_846delCTCA (p.Ser282Tyrfs*15), BRCA1(NM_007294.4):c.843_846delCTCA (p...) - BRCA1_001480 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.843_846del r.(?) p.(Ser282TyrfsTer15) - Unknown - pathogenic g.41246702_41246705del g.43094685_43094688del BRCA1(NM_007294.3):c.843_846delCTCA (p.S282Yfs*15), BRCA1(NM_007294.3):c.843_846delCTCA (p.Ser282Tyrfs*15), BRCA1(NM_007294.4):c.843_846delCTCA (p...) - BRCA1_001480 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - Austria white - - - - 6 Johan den Dunnen
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada white - - - - 1 Johan den Dunnen
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Czech Republic white - - - - 1 Johan den Dunnen
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - 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
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France unknown - - - - 2 Johan den Dunnen
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France white - - - - 3 Johan den Dunnen
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - Germany white - - - - 6 Johan den Dunnen
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - Germany unknown - - - - 7 Johan den Dunnen
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - 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
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 10 families F - Italy white - - - - 10 Johan den Dunnen
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Latvia white - - - - 1 Johan den Dunnen
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Lithuania white - - - - 1 Johan den Dunnen
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - 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
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - United States white - - - - 7 Johan den Dunnen
+/. - c.843_846del r.(?) p.(Ser282Tyrfs*15) - Unknown - pathogenic (dominant) g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - PubMed: Levant 2012, Journal: Laitman 2019 - rs80357919 Germline - - - - - DNA SEQ - - BROVCA 22366370-cas PubMed: Levant 2012, Journal: Laitman 2019 family F - Croatia (Hrvatska) - - - - - 3 Eitan Friedman
+/. - c.843_846del r.(?) p.(Ser282Tyrfs*15) - Unknown - pathogenic (dominant) g.41246702_41246705del g.43094685_43094688del 962del4 - BRCA1_001480 - Journal: Laitman 2019 - rs80357919 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Greece - - - - - 1 Eitan Friedman
+/. - c.843_846del r.(?) p.(Ser282Tyrfs*15) - Unknown - pathogenic (dominant) g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - PubMed: Dobricic 2013, Journal: Laitman 2019 - rs80357919 Germline - 1/94 cases - - - DNA SEQ - - BROVCA 23635950-cas PubMed: Dobricic 2013, Journal: Laitman 2019 case F - Serbia - - - - - 1 Eitan Friedman
+/. - c.843_846del r.(?) p.(Ser282Tyrfs*15) - Unknown - pathogenic (dominant) g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - PubMed: Stegel 2011, Journal: Laitman 2019 - rs80357919 Germline - - - - - DNA SEQ - - BROVCA 21232165-cas PubMed: Stegel 2011, Journal: Laitman 2019 families F - Slovenia - - - - - 2 Eitan Friedman
+/. - c.843_846del r.(?) p.(Ser282Tyrfs*15) - Unknown ACMG pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 ACMG grading: PS4, PP1, PVS1, PP5, PM2; reported in Wagner 1998. Int J Cancer 77: 354; Janezic 1999. Hum Mol Genet 8: 889; Pern 2012. PLoS One 7: 47993; Azzollini 2016. Eur J Intern Med 32: 65; Susswein 2016. Genet Med 18: 823 - - rs80357919 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
?/. - c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - VUS g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 classified as class 3, 4 or 5 in 1/12850 targeted tests and 3/25800 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 - 4 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 4 UK Variant Sharing Initiative
+/. - c.843_846del r.(?) p.(Ser282Tyrfs*15) - Unknown ACMG pathogenic g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 ACMG grading: PVS1,PM2,PP5; BC at age 38y, mother ovarian-cancer at age 36y; Simard et al. 1994. Nat Genet 8: 392; Walsh et al. 2011. Proc Natl Acad Sci U S A 108: 18032; Salo-Mullen et al. 2015. Cancer 24: 4382 - - rs80357919 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - Germany - - - - - 1 Andreas Laner
+/. 11 c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - pathogenic (dominant) g.41246702_41246705del g.43094685_43094688del - - BRCA1_001480 - PubMed: Santonocito 2020 - rs80357919 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.843_846del r.(?) p.(Ser282Tyrfs*15) - Parent #1 - NA g.41246702_41246705del - chr17_41246701_ATGAG_A - BRCA1_001480 not in 53461 controls; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 3 BRIDGES consortium
+/. - c.843_846del r.(?) p.(Ser282Tyrfs*15) FA Maternal (confirmed) - likely pathogenic (dominant) g.41246702_41246705del g.43094685_43094688del 843_846delCTCA - BRCA1_001480 - PubMed: Chirita-Emandi 2021 - rs80357919 Germline - - - - - DNA SEQ, SEQ-NG - TruSightOne panel FANC FamPatIV8 PubMed: Chirita-Emandi 2021 4-generation family, 1 ffected M - Romania - - - - - 1 Johan den Dunnen
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