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.

56 entries on 1 page. Showing entries 1 - 56.
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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     
+/+ 17 c.5030_5033del r.(?) p.(Thr1677fs) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033del4 - BRCA1_001035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 17 c.5030_5033del r.(?) p.(Thr1677fs) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033del4 - BRCA1_001035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 17 c.5030_5033del r.(?) p.(Thr1677fs) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033del4 - BRCA1_001035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 17 c.5030_5033del r.(?) p.(Thr1677fs) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033del4 - BRCA1_001035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 17 c.5030_5033del r.(?) p.(Thr1677fs) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033del4 - BRCA1_001035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 17 c.5030_5033del r.(?) p.(Thr1677fs) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033del4 - BRCA1_001035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 17 c.5030_5033del r.(?) p.(Thr1677fs) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033del4 - BRCA1_001035 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033delCTAA - BRCA1_001035 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - - - - Unknown - - - - - DNA SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
+/+ 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic (dominant) g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033delCTAA - BRCA1_001035 - - - rs80357580 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR0811 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033delCTAA - BRCA1_001035 - - - rs80357580 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR0906 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033delCTAA - BRCA1_001035 - - - rs80357580 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1303 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033delCTAA - BRCA1_001035 - - - rs80357580 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1528 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033delCTAA - BRCA1_001035 - - - rs80357580 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR2109 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del c.5030_5033delCTAA - BRCA1_001035 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast ? - - - - Belgium - - - - - 1 Katrien Storm
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 17 c.5030_5033del r.(?) p.(Thr1677IlefsTer2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del BRCA1(NM_007294.3):c.5030_5033delCTAA (p.T1677Ifs*2), BRCA1(NM_007294.4):c.5030_5033delCTAA (p.T1677Ifs*2) - BRCA1_001035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.5030_5033del r.(?) p.(Thr1677IlefsTer2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del BRCA1(NM_007294.3):c.5030_5033delCTAA (p.T1677Ifs*2), BRCA1(NM_007294.4):c.5030_5033delCTAA (p.T1677Ifs*2) - BRCA1_001035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Austria white - - - - 1 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - 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
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 12 families F - France white - - - - 12 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 15 families F - France unknown - - - - 15 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Germany white - - - - 2 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Germany unknown - - - - 5 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Hungary white - - - - 1 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 21 families F - Italy white - - - - 21 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 9 families F - Korea Asian - - - - 9 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Mexico Hispanic - - - - 1 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Pakistan Asian - - - - 1 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Poland white - - - - 1 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Portugal white - - - - 1 Johan den Dunnen
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - 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
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - 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
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 9 families F - United States white - - - - 9 Johan den Dunnen
+/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic (dominant) g.41219669_41219672del g.43067652_43067655del 5030_5033delCTAA - BRCA1_001035 - PubMed: Dodova 2015, Journal: Laitman 2019 - rs80357862 Germline - - - - - DNA SEQ - - BROVCA 26183948-cas PubMed: Dodova 2015, Journal: Laitman 2019 family F - Bulgaria - - - - - 1 Eitan Friedman
+/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic (dominant) g.41219669_41219672del g.43067652_43067655del 5149del4 - BRCA1_001035 - Journal: Laitman 2019 - rs80357862 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Greece - - - - - 1 Eitan Friedman
+/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic (dominant) g.41219669_41219672del g.43067652_43067655del 5149del4 - BRCA1_001035 - Journal: Laitman 2019 - rs80357862 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Italy - - - - - 1 Eitan Friedman
+/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic (dominant) g.41219669_41219672del g.43067652_43067655del 5149del4 - BRCA1_001035 - PubMed: Abdel-Razeq 2018, Journal: Laitman 2019 - rs80357862 Germline - - - - - DNA SEQ - - BROVCA 29409476-cas PubMed: Abdel-Razeq 2018, Journal: Laitman 2019 family F - Jordan - - - - - 3 Eitan Friedman
+/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic (dominant) g.41219669_41219672del g.43067652_43067655del 5149del4 - BRCA1_001035 - Journal: Laitman 2019 - rs80357862 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Kuwait - - - - - 1 Eitan Friedman
+/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic (dominant) g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: El Saghir 2015, Journal: Laitman 2019 - rs80357862 Germline - - - - - DNA SEQ - - BROVCA 25777348-cas PubMed: El Saghir 2015, Journal: Laitman 2019 family F - Lebanon - - - - - 1 Eitan Friedman
+/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic (dominant) g.41219669_41219672del g.43067652_43067655del 5030_5033delCTAA - BRCA1_001035 - PubMed: Abulkhair 2018, Journal: Laitman 2019 - rs80357862 Germline - - - - - DNA SEQ - - BROVCA 30199306-cas PubMed: Abulkhair 2018, Journal: Laitman 2019 cases F - Saudi Arabia Arab - - - - 1 Eitan Friedman
+/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033del, 5149del4 - BRCA1_001035 - PubMed: Bhaskaran 2019 - (refs 62) - rs80357862 Germline - 3/543 cases - - - DNA SEQ - - cancer, breast BRCA1-var474 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 3 Johan den Dunnen
+/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Unknown - pathogenic g.41219669_41219672del g.43067652_43067655del 5030_5033delCTAA - BRCA1_001035 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic (dominant) g.41219669_41219672del g.43067652_43067655del 5030_5033delCTAA - BRCA1_001035 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 11 families with BRCA1/BRCA2 variant carriers F - France - - - - - 11 Johan den Dunnen
?/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - VUS g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 classified as class 3, 4 or 5 in 10/12850 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 - 13 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 13 UK Variant Sharing Initiative
+/. 17 c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - pathogenic (dominant) g.41219669_41219672del g.43067652_43067655del - - BRCA1_001035 - PubMed: Santonocito 2020 - rs80357580 Germline - 3/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 3 Johan den Dunnen
?/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - NA g.41219669_41219672del - chr17_41219665_ATTAG_A - BRCA1_001035 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 - 11/60466 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 - 11 BRIDGES consortium
?/. - c.5030_5033del r.(?) p.(Thr1677Ilefs*2) - Parent #1 - NA g.41219669_41219672del - chr17_41219665_ATTAG_A - BRCA1_001035 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 - 3/53461 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 - 3 BRIDGES consortium
+/. - c.5030_5033del r.(?) p.(Thr1677IlefsTer2) - Unknown - pathogenic g.41219669_41219672del - BRCA1(NM_007294.3):c.5030_5033delCTAA (p.T1677Ifs*2), BRCA1(NM_007294.4):c.5030_5033delCTAA (p.T1677Ifs*2) - BRCA1_001035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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