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.

60 entries on 1 page. Showing entries 1 - 60.
Legend   How to query  

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.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/. 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic g.41244063del g.43092046del 3604delA (1162 Stop 1210) - BRCA1_001222 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic (dominant) g.41244063del g.43092046del - - BRCA1_001222 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Unknown - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.3485del r.(?) p.(Asp1162ValfsTer48) - Unknown - pathogenic g.41244063del g.43092046del BRCA1(NM_007294.3):c.3485del (p.(Asp1162ValfsTer48)), BRCA1(NM_007294.3):c.3485delA (p.D1162Vfs*48), BRCA1(NM_007294.4):c.3485delA (p.D1162Vfs*48) - BRCA1_001222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3485del r.(?) p.(Asp1162ValfsTer48) - Unknown - pathogenic g.41244063del g.43092046del BRCA1(NM_007294.3):c.3485del (p.(Asp1162ValfsTer48)), BRCA1(NM_007294.3):c.3485delA (p.D1162Vfs*48), BRCA1(NM_007294.4):c.3485delA (p.D1162Vfs*48) - BRCA1_001222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3485del r.(?) p.(Asp1162ValfsTer48) - Unknown - pathogenic g.41244063del g.43092046del BRCA1(NM_007294.3):c.3485del (p.(Asp1162ValfsTer48)), BRCA1(NM_007294.3):c.3485delA (p.D1162Vfs*48), BRCA1(NM_007294.4):c.3485delA (p.D1162Vfs*48) - BRCA1_001222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3485del r.(?) p.(Asp1162ValfsTer48) - Unknown - pathogenic g.41244063del g.43092046del BRCA1(NM_007294.3):c.3485del (p.(Asp1162ValfsTer48)), BRCA1(NM_007294.3):c.3485delA (p.D1162Vfs*48), BRCA1(NM_007294.4):c.3485delA (p.D1162Vfs*48) - BRCA1_001222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - Finland white - - - - 8 Johan den Dunnen
+/. 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - 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
+/. 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France unknown - - - - 1 Johan den Dunnen
+/. 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - 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.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 40 families F - Germany unknown - - - - 40 Johan den Dunnen
+/. 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Sweden white - - - - 1 Johan den Dunnen
+/. 11 c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic g.41244063del g.43092046del - - BRCA1_001222 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - United States white - - - - 8 Johan den Dunnen
+/. - c.3485del r.(?) p.Asp1162Valfs*48 - Unknown ACMG pathogenic g.41244063del g.43092046del - - BRCA1_001222 ACMG grading: PP5,PM2,PVS1; contralateral BC both triple negative at age 48y and 54y, mother leukaemia 42y, 2 cousins maternal side BC; reported in Peelen 1997. Am J Hum Genet 60: 1041 - - rs80357509 Germline - - - - - DNA SEQ-NG - - - - - - F - Germany - - - - - 1 Andreas Laner
+/. - c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - pathogenic (dominant) g.41244063del g.43092046del 3485delA - BRCA1_001222 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
?/. - c.3485del r.(?) p.(Asp1162Valfs*48) - Parent #1 - NA g.41244063del - chr17_41244062_AT_A - BRCA1_001222 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 - 5/60466 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 - 5 BRIDGES consortium
+/. - c.3485del r.(?) p.(Asp1162ValfsTer48) - Unknown - pathogenic g.41244063del - BRCA1(NM_007294.3):c.3485del (p.(Asp1162ValfsTer48)), BRCA1(NM_007294.3):c.3485delA (p.D1162Vfs*48), BRCA1(NM_007294.4):c.3485delA (p.D1162Vfs*48) - BRCA1_001222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3485del r.(?) p.(Asp1162ValfsTer48) - Unknown - pathogenic g.41244063del - BRCA1(NM_007294.3):c.3485del (p.(Asp1162ValfsTer48)), BRCA1(NM_007294.3):c.3485delA (p.D1162Vfs*48), BRCA1(NM_007294.4):c.3485delA (p.D1162Vfs*48) - BRCA1_001222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.