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.

63 entries on 1 page. Showing entries 1 - 63.
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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)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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Owner     
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
?/. 11 c.1687C>T r.(?) p.Gln563* - Unknown - NA g.41245861G>A g.43093844G>A Q563X - BRCA1_000161 - PubMed: Loman 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1687C>T r.(?) p.Gln563* - Unknown - NA g.41245861G>A g.43093844G>A Q563X - BRCA1_000161 - PubMed: Salazar 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - Pölsler et al. 2015, submitted - - Germline - 3/238 patients - - - DNA SEQ leukocytes - BROVCA1 - Pölsler 2015, submitted - - - Austria - - - - - 3 Raphael Johannes Morscher
+/. 11 c.1687C>T r.(?) p.(Gln563Ter) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - rs80356898 Germline - - - - - DNA MLPA, SEQ Blood - cancer, ovarian - - - F - Norway white - - - - 1 Bjørn Ivar Haukanes
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Unknown kConFab pathogenic g.41245861G>A g.43093844G>A 1806 C>T (STOP 563) - BRCA1_000161 - 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.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Zuradelli 2010 - F - (Italy) - - - - - 1 James Whitworth
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A 1806C>T- Gln563ter (Q563X) - BRCA1_000161 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Unknown ENIGMA pathogenic g.41245861G>A g.43093844G>A Q563X - BRCA1_000161 - - - rs80356898 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/+ 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic (dominant) g.41245861G>A g.43093844G>A - - BRCA1_000161 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Nienke van der Stoep
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.1687C>T r.(?) p.(Gln563Ter) - Unknown - pathogenic g.41245861G>A g.43093844G>A BRCA1(NM_007294.3):c.1687C>T (p.Q563*, p.(Gln563Ter)), BRCA1(NM_007294.4):c.1687C>T (p.Q563*) - BRCA1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1687C>T r.(?) p.(Gln563Ter) - Unknown - pathogenic g.41245861G>A g.43093844G>A BRCA1(NM_007294.3):c.1687C>T (p.Q563*, p.(Gln563Ter)), BRCA1(NM_007294.4):c.1687C>T (p.Q563*) - BRCA1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 26 families F - Austria white - - - - 26 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil African American - - - - 1 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - 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.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Brazil white - - - - 3 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Brazil unknown - - - - 3 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - 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.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - 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.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 16 families F - Czech Republic white - - - - 16 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 19 families F - Denmark white - - - - 19 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Finland white - - - - 4 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - 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.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - France white - - - - 5 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 13 families F - Germany white - - - - 13 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 50 families F - Germany unknown - - - - 50 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 39 families F - Italy white - - - - 39 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Lithuania white - - - - 5 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Spain white - - - - 5 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 9 families F - Sweden white - - - - 9 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 23 families F - Sweden unknown - - - - 23 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United States Hispanic - - - - 4 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - United States unknown - - - - 6 Johan den Dunnen
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 33 families F - United States white - - - - 33 Johan den Dunnen
+/. - c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic (dominant) g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Levant 2012, Journal: Laitman 2019 - rs80356898 Germline - - - - - DNA SEQ - - BROVCA 22366370-cas PubMed: Levant 2012, Journal: Laitman 2019 family F - Croatia (Hrvatska) - - - - - 2 Eitan Friedman
+/. - c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic (dominant) g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Jakimovska 2018, Journal: Laitman 2019 - rs80356898 Germline - 1/313 cases - - - DNA SEQ - - BROVCA 29335924-cas PubMed: Jakimovska 2018, Journal: Laitman 2019 case F - Macedonia - - - - - 1 Eitan Friedman
+/. - c.1687C>T r.(?) p.(Gln563*) - Unknown - pathogenic (dominant) g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Stegel 2011, Journal: Laitman 2019, PubMed: Cvelbar 2017, Journal: Laitman 2019 - rs80356898 Germline - - - - - DNA SEQ - - BROVCA 21232165-cas PubMed: Stegel 2011, Journal: Laitman 2019, PubMed: Cvelbar 2017, Journal: Laitman 2019 families F - Slovenia - - - - - 13 Eitan Friedman
+/. - c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic (dominant) g.41245861G>A g.43093844G>A - - BRCA1_000161 - 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.1687C>T r.(?) p.(Gln563Ter) - Unknown - pathogenic g.41245861G>A g.43093844G>A BRCA1(NM_007294.3):c.1687C>T (p.Q563*, p.(Gln563Ter)), BRCA1(NM_007294.4):c.1687C>T (p.Q563*) - BRCA1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic (dominant) g.41245861G>A g.43093844G>A - - BRCA1_000161 - - - rs80356898 Germline - 1/22 cases - - - DNA SEQ-NG-I - gene panel ATM, AXIN2, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MRE11A, MSH2, MSH6, MUTYH, NF1, PALB2, PMS2, PTEN, RAD51, RAD51C, RAD51D, STK11, TP53 cancer, breast P-19 - - F - Brazil - - - - - 1 CEGH-CEL
?/. - c.1687C>T r.(?) p.(Gln563*) - Parent #1 - VUS g.41245861G>A g.43093844G>A - - BRCA1_000161 classified as class 3, 4 or 5 in 1/12850 targeted tests and 1/25800 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 - 2 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 2 UK Variant Sharing Initiative
+/. 11 c.1687C>T r.(?) p.(Gln563*) - Parent #1 - pathogenic (dominant) g.41245861G>A g.43093844G>A - - BRCA1_000161 - PubMed: Santonocito 2020 - rs80356898 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.1687C>T r.(?) p.(Gln563Ter) - Unknown - pathogenic g.41245861G>A - BRCA1(NM_007294.3):c.1687C>T (p.Q563*, p.(Gln563Ter)), BRCA1(NM_007294.4):c.1687C>T (p.Q563*) - BRCA1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1687C>T r.(?) p.(Gln563*) - Parent #1 - NA g.41245861G>A - chr17_41245861_G_A - BRCA1_000161 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 - 12/60466 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 - 12 BRIDGES consortium
?/. - c.1687C>T r.(?) p.(Gln563*) - Parent #1 - NA g.41245861G>A - chr17_41245861_G_A - BRCA1_000161 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 - 4/53461 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 - 4 BRIDGES consortium
+/. - c.1687C>T r.(?) p.(Gln563*) - Unknown ACMG pathogenic (dominant) g.41245861G>A g.43093844G>A - - BRCA1_000161 - - 37426 - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_23 - - F - Brazil - - - - - 1 Giovana Torrezan
+/. - c.1687C>T r.(?) p.(Gln563*) - Unknown ACMG pathogenic (dominant) g.41245861G>A g.43093844G>A - - BRCA1_000161 - - 37426 - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_32 - - F - Brazil - - - - - 1 Giovana Torrezan
+/. - c.1687C>T r.(?) p.(Gln563Ter) - Unknown - pathogenic g.41245861G>A - BRCA1(NM_007294.3):c.1687C>T (p.Q563*, p.(Gln563Ter)), BRCA1(NM_007294.4):c.1687C>T (p.Q563*) - BRCA1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1687C>T r.(?) p.(Gln563Ter) - Unknown - pathogenic (dominant) g.41245861G>A g.43093844G>A - - BRCA1_000161 - Nodo Argentina Varioma, unpublished - rs80356898 Germline - - - - - DNA SEQ - - BROVCA BR3090 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. - c.1687C>T r.(?) p.(Gln563Ter) - Unknown - pathogenic g.41245861G>A - BRCA1(NM_007294.3):c.1687C>T (p.Q563*, p.(Gln563Ter)), BRCA1(NM_007294.4):c.1687C>T (p.Q563*) - BRCA1_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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