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.

59 entries on 1 page. Showing entries 1 - 59.
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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.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704del5 - BRCA1_001454 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704del5 - BRCA1_001454 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704del5 - BRCA1_001454 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704del5 - BRCA1_001454 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704del5 - BRCA1_001454 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704del5 - BRCA1_001454 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704delGTAAA - BRCA1_001454 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown kConFab pathogenic g.41243849_41243853del g.43091832_43091836del 3819_3823 del GTAAA (STOP 1242) - BRCA1_001454 - kConFab variant classification: P - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - - - - Germline - - - - - DNA HPLC, SEQ - - MINAS - PubMed: Heidemann 2012 - F - (Germany) - - - - - 1 James Whitworth
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704delGTAAA - BRCA1_001454 - - - - Unknown - - - - - DNA SEQ-NG - - cancer, breast - - - - - - - - - - - 1 Katrien Storm
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del 3819del5-ter1241 - BRCA1_001454 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 14 families (BRCA1/2 screening) - - Greece - - - - - 14 Florentia Fostira
+/+ 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic (dominant) g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704delGTAAA - BRCA1_001454 - - - rs80357609 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2054 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704del5 - BRCA1_001454 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704del5 - BRCA1_001454 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704del5 - BRCA1_001454 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.3700_3704del r.(?) p.(Val1234GlnfsTer8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del BRCA1(NM_007294.3):c.3700_3704delGTAAA (p.V1234Qfs*8), BRCA1(NM_007294.4):c.3700_3704delGTAAA (p.V1234Qfs*8) - BRCA1_001454 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Austria white - - - - 3 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - 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.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 25 families F - Czech Republic white - - - - 25 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 15 families F - Denmark white - - - - 15 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - 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.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - France unknown - - - - 4 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 16 families F - Germany white - - - - 16 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 41 families F - Germany unknown - - - - 41 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Hungary white - - - - 4 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Italy white - - - - 4 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - 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.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Lithuania white - - - - 2 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - 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
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - 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.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - 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.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United Kingdom (Great Britain) white - - - - 4 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United States unknown - - - - 4 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 18 families F - United States white - - - - 18 Johan den Dunnen
+?/+ 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - likely pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704delGTAAA - BRCA1_001454 - - - - Germline - - - - - DNA SEQ Blood 24 gene panel BROVCA1 Yakicier - - F - Turkey - - - No None 1 Cengiz Yakicier
+/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic (dominant) g.41243849_41243853del g.43091832_43091836del 3819del5 - BRCA1_001454 - Journal: Laitman 2019 - rs80357609 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Albania - - - - - 1 Eitan Friedman
+/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic (dominant) g.41243849_41243853del g.43091832_43091836del 3819del5 - BRCA1_001454 - PubMed: Konstantopoulou 20008, Journal: Laitman 2019 - - Germline - 1/127 case families - - - DNA DHPLC, SEQ - - BROVCA 17453335-cas PubMed: Konstantopoulou 20008, Journal: Laitman 2019 case F - Greece - - - - - 2 Eitan Friedman
+/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic (dominant) g.41243849_41243853del g.43091832_43091836del 3819del5 - BRCA1_001454 - Journal: Laitman 2019 - rs80357609 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Italy - - - - - 1 Eitan Friedman
+/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic (dominant) g.41243849_41243853del g.43091832_43091836del 3700_3704del5 - BRCA1_001454 - PubMed: Jakimovska 2018, Journal: Laitman 2019 - rs80357609 Germline - 3/313 cases - - - DNA SEQ - - BROVCA 29335924-cas PubMed: Jakimovska 2018, Journal: Laitman 2019 case F - Macedonia - - - - - 3 Eitan Friedman
+/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic (dominant) g.41243849_41243853del g.43091832_43091836del 3819delGTAAA - BRCA1_001454 - PubMed: Yazici 2000, Journal: Laitman 2019 - rs80357609 Germline - 1/53 case families - - - DNA PTT, SEQ - - BROVCA 10952777-cas PubMed: Yazici 2000, Journal: Laitman 2019 family F - Turkey - - - - - 1 Eitan Friedman
+/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704del - BRCA1_001454 - PubMed: Bhaskaran 2019 - (refs 95) - rs80357609 Germline - 1/826 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var350 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704delGTAAA - BRCA1_001454 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704delGTAAA - BRCA1_001454 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704delGTAAA - BRCA1_001454 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic g.41243849_41243853del g.43091832_43091836del 3700_3704delGTAAA - BRCA1_001454 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic (dominant) g.41243849_41243853del g.43091832_43091836del 3700_3704delGTAAA - BRCA1_001454 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Unknown - pathogenic (dominant) g.41243849_41243853del g.43091832_43091836del 3700_3704delGTAAA - BRCA1_001454 - Journal: Gao 2020 as reported in: PubMed: Wu 2017, Journal: Wu 2017 - - Germline - 1 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Wu 2017, Journal: Wu 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - VUS g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 classified as class 3, 4 or 5 in 5/12850 targeted tests and 6/25800 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 - 11 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 11 UK Variant Sharing Initiative
+/. 11 c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - pathogenic (dominant) g.41243849_41243853del g.43091832_43091836del - - BRCA1_001454 - PubMed: Santonocito 2020 - rs80357609 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.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - NA g.41243849_41243853del - chr17_41243843_GTTTAC_G - BRCA1_001454 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 - 10/60466 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 - 10 BRIDGES consortium
?/. - c.3700_3704del r.(?) p.(Val1234Glnfs*8) - Parent #1 - NA g.41243849_41243853del - chr17_41243843_GTTTAC_G - BRCA1_001454 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.3700_3704del r.(?) p.(Val1234GlnfsTer8) - Unknown - pathogenic g.41243849_41243853del - BRCA1(NM_007294.3):c.3700_3704delGTAAA (p.V1234Qfs*8), BRCA1(NM_007294.4):c.3700_3704delGTAAA (p.V1234Qfs*8) - BRCA1_001454 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3700_3704del r.(?) p.(Val1234GlnfsTer8) - Unknown - pathogenic g.41243849_41243853del - BRCA1(NM_007294.3):c.3700_3704delGTAAA (p.V1234Qfs*8), BRCA1(NM_007294.4):c.3700_3704delGTAAA (p.V1234Qfs*8) - BRCA1_001454 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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