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.

92 entries on 1 page. Showing entries 1 - 92.
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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     
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - VUS g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 20 c.5251C>T r.(?) p.Arg1751* - Unknown - NA g.41209095G>A g.43057078G>A R1751X - BRCA1_000435 - PubMed: Lapodoulou 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - Pölsler et al. 2015, submitted - - Germline - 1/238 patients - - - DNA SEQ Leukocytes - BROVCA1 - Pölsler 2015, submitted - F no (Austria) - - - - - 1 Raphael Johannes Morscher
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Germline - - - - - DNA SEQ - - BROVCA - - - - - Germany - - - - - 1 Andreas Laner
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown kConFab pathogenic g.41209095G>A g.43057078G>A 5370 C>T (R1751X) - BRCA1_000435 - kConFab variant classification: P - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A 5370C>T-Arg1751ter (R1751X) - BRCA1_000435 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 18 families (BRCA1/2 screening) - - Greece - - - - - 18 Florentia Fostira
+/+ 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic (dominant) g.41209095G>A g.43057078G>A - - BRCA1_000435 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Nienke van der Stoep
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 20 c.5251C>T r.(?) p.(Arg1751Ter) - Unknown - pathogenic g.41209095G>A g.43057078G>A BRCA1(NM_007294.3):c.5251C>T (p.R1751*, p.Arg1751*), BRCA1(NM_007294.4):c.5251C>T (p.R1751*) - BRCA1_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.5251C>T r.(?) p.(Arg1751Ter) - Unknown - pathogenic g.41209095G>A g.43057078G>A BRCA1(NM_007294.3):c.5251C>T (p.R1751*, p.Arg1751*), BRCA1(NM_007294.4):c.5251C>T (p.R1751*) - BRCA1_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.5251C>T r.(?) p.(Arg1751Ter) - Unknown - pathogenic g.41209095G>A g.43057078G>A BRCA1(NM_007294.3):c.5251C>T (p.R1751*, p.Arg1751*), BRCA1(NM_007294.4):c.5251C>T (p.R1751*) - BRCA1_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.5251C>T r.(?) p.(Arg1751Ter) - Unknown - pathogenic g.41209095G>A g.43057078G>A BRCA1(NM_007294.3):c.5251C>T (p.R1751*, p.Arg1751*), BRCA1(NM_007294.4):c.5251C>T (p.R1751*) - BRCA1_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 16 families F - Austria white - - - - 16 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - 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
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - 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
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Czech Republic white - - - - 1 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Denmark white - - - - 1 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Finland white - - - - 2 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - 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
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 10 families F - France unknown - - - - 10 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - 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
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - Germany unknown - - - - 7 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - 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
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Italy white - - - - 2 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Malaysia Asian - - - - 1 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Spain white - - - - 2 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - 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) unknown - - - - 1 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States unknown - - - - 1 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States Asian - - - - 3 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United States African American - - - - 4 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 12 families F - United States white - - - - 12 Johan den Dunnen
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80357123 Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic (dominant) g.41209095G>A g.43057078G>A R1751X - BRCA1_000435 - PubMed: Konstantopoulou 20008 - rs80357123 Germline - 1/127 case families - - - DNA DHPLC, SEQ - - BROVCA 17453335-cas PubMed: Konstantopoulou 20008 cases F - Greece - - - - - 1 Johan den Dunnen
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic (dominant) g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Levant 2012 - rs80357123 Germline - - - - - DNA SEQ - - BROVCA 22366370-cas PubMed: Levant 2012 family F - Croatia (Hrvatska) - - - - - 2 Johan den Dunnen
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic (dominant) g.41209095G>A g.43057078G>A R1751X - BRCA1_000435 - Journal: Laitman 2019 - rs80357123 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Greece - - - - - 1 Eitan Friedman
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic (dominant) g.41209095G>A g.43057078G>A R1751X - BRCA1_000435 - Journal: Laitman 2019 - rs80357123 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Italy - - - - - 1 Eitan Friedman
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic (dominant) g.41209095G>A g.43057078G>A R1751X - BRCA1_000435 - Journal: Laitman 2019 - rs80357123 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Kuwait - - - - - 1 Eitan Friedman
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic (dominant) g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Abulkhair 2018, Journal: Laitman 2019 - rs80357123 Germline - - - - - DNA SEQ - - BROVCA 30199306-cas PubMed: Abulkhair 2018, Journal: Laitman 2019 cases F - Saudi Arabia Arab - - - - 3 Eitan Friedman
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic (dominant) g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Alhugail 2018, Journal: Laitman 2019 - rs80357123 Germline - 1/173 cases - - - DNA SEQ - - BROVCA 29297111-cas PubMed: Alhugail 2018, Journal: Laitman 2019 cases F - Saudi Arabia Arab - - - - 1 Eitan Friedman
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic (dominant) g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Bu 2016, Journal: Laitman 2019 - rs80357123 Germline - - - - - DNA SEQ - - BROVCA 27082205-cas PubMed: Bu 2016, Journal: Laitman 2019 cases F - Saudi Arabia Arab - - - - 1 Eitan Friedman
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic (dominant) g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Stegel 2011, Journal: Laitman 2019 - rs80357123 Germline - - - - - DNA SEQ - - BROVCA 21232165-cas PubMed: Stegel 2011, Journal: Laitman 2019 families F - Slovenia - - - - - 1 Eitan Friedman
+/. - c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A 5251C>T, 5370C>T - BRCA1_000435 - PubMed: Bhaskaran 2019 - (refs 41, 74, 82, 86, 87, 89, 90) - rs80357123 Germline - 14/19130 cases - - - DNA SEQ - - cancer, breast BRCA1-var510 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 14 Johan den Dunnen
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic (dominant) g.41209095G>A g.43057078G>A - - BRCA1_000435 - 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.5251C>T r.(?) p.(Arg1751*) - Parent #1 - pathogenic g.41209095G>A g.43057078G>A - - BRCA1_000435 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80357123 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.5251C>T r.(?) p.(Arg1751Ter) - Unknown - pathogenic g.41209095G>A - BRCA1(NM_007294.3):c.5251C>T (p.R1751*, p.Arg1751*), BRCA1(NM_007294.4):c.5251C>T (p.R1751*) - BRCA1_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - NA g.41209095G>A - chr17_41209095_G_A - BRCA1_000435 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
+/. 20 c.5251C>T r.(?) p.(Arg1751Ter) - Unknown - pathogenic (dominant) g.41209095G>A g.43057078G>A 5251C>T - BRCA1_000435 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 221 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 20 c.5251C>T r.(?) p.(Arg1751*) - Unknown - pathogenic (dominant) g.41209095G>A g.43057078G>A - - BRCA1_000435 - Journal: Gao 2020 as reported in: PubMed: Wang 2015, Journal: Wang 2015, PubMed: Wang 2015, Journal: Wang 2015, PubMed: Cao 2016, Journal: Cao 2016, PubMed: Shi 2017, Journal: Shi 2017, PubMed: Sun 2017, Journal: Sun 2017, PubMed: Zhang 2016, Journal: Zhang 2016, Wei 2017, PubMed: Lang 2017, Journal: Lang 2017 - - Germline - 13 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Wang 2015, Journal: Wang 2015, PubMed: Wang 2015, Journal: Wang 2015, PubMed: Cao 2016, Journal: Cao 2016, PubMed: Shi 2017, Journal: Shi 2017, PubMed: Sun 2017, Journal: Sun 2017, PubMed: Zhang 2016, Journal: Zhang 2016, Wei 2017, PubMed: Lang 2017, Journal: Lang 2017 breast/ovarian cancer families/patients - - China - - - - - 13 Xianqi Gao
?/. - c.5251C>T r.(?) p.(Arg1751*) - Parent #1 - VUS g.41209095G>A g.43057078G>A - - BRCA1_000435 classified as class 3, 4 or 5 in 2/12850 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 - 3 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 3 UK Variant Sharing Initiative
+/. - c.5251C>T r.(?) p.(Arg1751Ter) - Unknown - pathogenic g.41209095G>A - BRCA1(NM_007294.3):c.5251C>T (p.R1751*, p.Arg1751*), BRCA1(NM_007294.4):c.5251C>T (p.R1751*) - BRCA1_000435 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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