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.

32 entries on 1 page. Showing entries 1 - 32.
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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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Owner     
+/. 11 c.3228_3229del r.(?) p.(Gly1077AlafsTer8) - Unknown - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - - - rs80357635 Germline - - - - - DNA MLPA, SEQ, TaqMan Blood - cancer, breast - - - F - Norway white - - - - 1 Bjørn Ivar Haukanes
+/. 11 c.3228_3229del r.(?) p.(Gly1077AlafsTer8) - Unknown - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - - - rs80357635 Germline - - - - - DNA MLPA, SEQ, TaqMan Blood - cancer, ovarian - - - F - Norway white - - - - 1 Bjørn Ivar Haukanes
+/. 11 c.3228_3229del r.(?) p.(Gly1077AlafsTer8) - Unknown - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - - - rs80357635 Germline - - - - - DNA MLPA, SEQ, TaqMan Blood - cancer, ovarian - - - F - Norway white - - - - 1 Bjørn Ivar Haukanes
+/+ 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Unknown kConFab pathogenic g.41244321_41244322del g.43092304_43092305del 3347_3348 del AG (STOP 1084) - BRCA1_000674 - kConFab variant classification: P - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
+/+ 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic (dominant) g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil Asian - - - - 1 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - 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
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Finland white - - - - 1 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France white - - - - 2 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 33 families F - Italy white - - - - 33 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - 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
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - 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
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - South Africa unknown - - - - 4 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - 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
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Sweden white - - - - 2 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United Kingdom (Great Britain) white - - - - 3 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States unknown - - - - 1 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States African American - - - - 2 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States Asian - - - - 2 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United States white - - - - 4 Johan den Dunnen
+/. - c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Unknown - pathogenic (dominant) g.41244321_41244322del g.43092304_43092305del 3228_3229delAG - BRCA1_000674 - Journal: Laitman 2019 - rs80357635 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Israel - - - - - 1 Eitan Friedman
+/. - c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Unknown - pathogenic (dominant) g.41244321_41244322del g.43092304_43092305del 3228_3229delAG - BRCA1_000674 - Journal: Laitman 2019 - rs80357635 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Italy - - - - - 1 Eitan Friedman
+/. - c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic g.41244321_41244322del g.43092304_43092305del 3228_3229del, 3228_3229del - BRCA1_000674 - PubMed: Bhaskaran 2019 - (refs 81, 90, 95) - rs80357635 Germline - 3/9044 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var287 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 3 Johan den Dunnen
+/. - c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic (dominant) g.41244321_41244322del g.43092304_43092305del 3226_3227delAG - BRCA1_000674 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - - - - 2 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Unknown - pathogenic (dominant) g.41244321_41244322del g.43092304_43092305del 3228_3229delAG - BRCA1_000674 - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017, Yongtao Li 2014 - - Germline - 3 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017, Yongtao Li 2014 breast/ovarian cancer families/patients - - China - - - - - 3 Xianqi Gao
+/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - pathogenic (dominant) g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Santonocito 2020 - rs80357635 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.3228_3229del r.(?) p.(Gly1077Alafs*8) - Unknown - pathogenic (dominant) g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - PubMed: Santonocito 2020 - - Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA Pat1 PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - NA g.41244321_41244322del - chr17_41244318_CCT_C - BRCA1_000674 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 - 2/60466 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 - 2 BRIDGES consortium
?/. - c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - NA g.41244321_41244322del - chr17_41244318_CCT_C - BRCA1_000674 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 - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Parent #1 - VUS g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 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
+?/. 11 c.3228_3229del r.(?) p.(Gly1077Alafs*8) - Unknown - likely pathogenic (dominant) g.41244321_41244322del g.43092304_43092305del 3228_3229delAG - BRCA1_000674 - PubMed: Van Der Merwe 2022 - rs80357635 Germline - - - - - DNA SEQ - - BROVCA families PubMed: Van Der Merwe 2022 3 families F - South Africa - - - - - 3 Johan den Dunnen
+/. 11 c.3228_3229del r.(?) p.(Gly1077AlafsTer8) - Unknown - pathogenic (dominant) g.41244321_41244322del g.43092304_43092305del - - BRCA1_000674 - Nodo Argentina Varioma, unpublished - rs80357635 Germline - - - - - DNA SEQ - - BROVCA BR3339 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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