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.

85 entries on 1 page. Showing entries 1 - 85.
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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.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2019del r.(?) p.(Glu673fs) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2019del r.(?) p.(Glu673Aspfs*28) - Parent #1 - pathogenic (dominant) g.41245530del g.43093513del - - BRCA1_001033 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2019del r.(?) p.(Glu673Aspfs*28) - Unknown - pathogenic g.41245530del g.43093513del c.2019delA - BRCA1_001033 - - - - Germline - - - - - DNA SEQ, MLPA - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.2019del r.(?) p.(Glu673Aspfs*28) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.2019del r.(?) p.(Glu673Aspfs*28) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.2019del r.(?) p.(Glu673Aspfs*28) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.2019del r.(?) p.(Glu673Aspfs*28) - Unknown - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 11 c.2019del r.(?) p.(Glu673AspfsTer28) - Unknown - pathogenic g.41245530del g.43093513del BRCA1(NM_007294.3):c.2019delA (p.E673Dfs*28), BRCA1(NM_007294.3):c.2019delA (p.Glu673Aspfs*28), BRCA1(NM_007294.4):c.2019delA (p.E673Dfs*28) - BRCA1_001033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2019del r.(?) p.(Glu673AspfsTer28) - Unknown - pathogenic g.41245530del g.43093513del BRCA1(NM_007294.3):c.2019delA (p.E673Dfs*28), BRCA1(NM_007294.3):c.2019delA (p.Glu673Aspfs*28), BRCA1(NM_007294.4):c.2019delA (p.E673Dfs*28) - BRCA1_001033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2019del r.(?) p.(Glu673AspfsTer28) - Unknown - pathogenic g.41245530del g.43093513del BRCA1(NM_007294.3):c.2019delA (p.E673Dfs*28), BRCA1(NM_007294.3):c.2019delA (p.Glu673Aspfs*28), BRCA1(NM_007294.4):c.2019delA (p.E673Dfs*28) - BRCA1_001033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2019del r.(?) p.(Glu673Aspfs*28) - Parent #1 - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - 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.2019del r.(?) p.(Glu673Aspfs*28) - Parent #1 - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada unknown - - - - 1 Johan den Dunnen
+/. 11 c.2019del r.(?) p.(Glu673Aspfs*28) - Parent #1 - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - 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.2019del r.(?) p.(Glu673Aspfs*28) - Parent #1 - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - 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
+/. 11 c.2019del r.(?) p.(Glu673Aspfs*28) - Parent #1 - pathogenic g.41245530del g.43093513del - - BRCA1_001033 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany unknown - - - - 1 Johan den Dunnen
+/. - c.2019del r.(?) p.(Glu673Aspfs*28) - Unknown - pathogenic (dominant) g.41245530del g.43093513del 2019delA - BRCA1_001033 - PubMed: Dobricic 2013, Journal: Laitman 2019 - rs80357626 Germline - 2/94 cases - - - DNA SEQ - - BROVCA 23635950-cas PubMed: Dobricic 2013, Journal: Laitman 2019 case F - Serbia - - - - - 2 Eitan Friedman
+/. - c.2019del r.(?) p.(Glu673Aspfs*28) - Unknown - pathogenic (dominant) g.41245530del g.43093513del 2138delA - BRCA1_001033 - Journal: Laitman 2019 - rs80357626 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Turkey - - - - - 1 Eitan Friedman
+/. - c.2019del r.(?) p.(Glu673Aspfs*28) - Unknown - pathogenic (dominant) g.41245530del g.43093513del 2137delA - BRCA1_001033 - Journal: Laitman 2019 - - Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 family F - Turkey - - - - - 1 Eitan Friedman
+/. - c.2019del r.(?) p.(Glu673Aspfs*28) - Parent #1 - pathogenic (dominant) g.41245530del g.43093513del 2019delA - BRCA1_001033 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 3 families with BRCA1/BRCA2 variant carriers F - France - - - - - 3 Johan den Dunnen
?/. - c.2019del r.(?) p.(Glu673Aspfs*28) - Parent #1 - NA g.41245530del - chr17_41245528_GT_G - BRCA1_001033 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 - 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
+/. 11 c.2019del r.(?) p.(Glu673AspfsTer28) - Unknown - pathogenic (dominant) g.41245530del g.43093513del 2019delA - BRCA1_001033 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 127 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.2019del r.(?) p.(Glu673AspfsTer28) - Unknown - pathogenic (dominant) g.41245530del g.43093513del 2019delA - BRCA1_001033 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 165 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. - c.2019del r.(?) p.(Glu673AspfsTer28) - Unknown - pathogenic g.41245530del - BRCA1(NM_007294.3):c.2019delA (p.E673Dfs*28), BRCA1(NM_007294.3):c.2019delA (p.Glu673Aspfs*28), BRCA1(NM_007294.4):c.2019delA (p.E673Dfs*28) - BRCA1_001033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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