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.

100 entries on 1 page. Showing entries 1 - 100.
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AscendingDNA change (cDNA)     

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ClinVar ID     

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+/+ 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - VUS g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - VUS g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - VUS g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T 5242C>A (1708 Ala to Glu) - BRCA1_000393 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 18 c.5123C>A r.[=, 5075_5152del] p.[Ala1708Glu,] - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 ESEfinder/ESRsearch, lymphocyte RT-PCR; ESE disruption/ESS creation, exon 18 skipping PubMed: Sanz 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 transcription activation/PS/BA/BS; strong functional effect PubMed: Lee 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Recombination rate; inconclusive PubMed: Caligo 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Clonogenic assay; as variant control PubMed: Caligo 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Transcription activation in yeast (GAL4-fusions); as variant control PubMed: Chapman & Verma 1996 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 - PubMed: Clapperton 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 - PubMed: Figge and Blankenship 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 - PubMed: Futreal 1994 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Peptide binding ability; as variant control PubMed: Glover 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Structure-based prediction (crystallography etc); predicted deleterious PubMed: Gough 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 evolutionary conservation analysis; predicted deleterious PubMed: Greenman 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 co-immunoprecipitation BRCA1-ER; as variant control PubMed: Kawai 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Oncogene expression; as variant control PubMed: Li 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 - PubMed: Loman 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Histopathology; predicted deleterious PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Centrosome amplification; as variant control PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Proteolytic degradation; predicted deleterious PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Structure-based prediction (crystallography etc); predicted deleterious PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Grantham score; predicted deleterious PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Nuclear localisation; as variant control PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Transcription activation in human cells; as variant control PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Loss of Heterozygosity; loss of wildtype allele PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 evolutionary conservation analysis; predicted deleterious PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5123C>A r.= p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 mRNA analysis (RT-PCR); as wildtype control PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Lovelock 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.spl p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 mRNA analysis (RT-PCR); predicted deleterious PubMed: Millevoi 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Structure-based prediction (crystallography etc); predicted deleterious PubMed: Mirkovic 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Transcription activation in yeast (GAL4-fusions); as variant control PubMed: Monteiro 1996 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Osorio 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 - PubMed: Phelan 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Thermodynamic stability prediction; very destabilizing PubMed: Rowling 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 - PubMed: Salazar 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 structure-based prediction (crystallography etc) BRCA1:BACH1; predicted deleterious PubMed: Shiozaki 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Transcription activation in yeast (GAL4-fusions); as variant control PubMed: Vallon-Christersson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Proteolytic degradation; as variant control PubMed: Williams 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Bayesian statistics; predicted deleterious PubMed: Williams 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Peptide binding ability; as variant control PubMed: Williams 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5123C>A r.(?) p.Ala1708Glu - Unknown - NA g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 Survival assay with HCC1937 (after MMS treatment); as variant control PubMed: Zhong 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - Pölsler et al. 2015, submitted - - Germline - 1/238 patients - - - DNA SEQ Leukocytes - BROVCA1 - Pölsler 2015, submitted - F no (Austria) - - - - - 1 Raphael Johannes Morscher
+/+ 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown kConFab pathogenic g.41215920G>T g.43063903G>T 5242 C>A (A1708E) - BRCA1_000393 - kConFab variant classification: P - - Germline - 3/1658 - - - DNA SEQ - - cancer, breast - - 3 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 3 kConFab - Heather Thorne
+/? 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Caldes 2002 - - Germline - - - - - DNA DGGE, SEQ - - MINAS - PubMed: Caldes 2002 - F - (Spain) - - - - - 1 James Whitworth
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Germline - - - - - DNA DGGE, SEQ - - MINAS - PubMed: Caldes 2002 - M - (Spain) - - - - - 1 James Whitworth
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Germline - - - - - DNA DGGE, SEQ - - MINAS - PubMed: Caldes 2002 - F - (Spain) - - - - - 1 James Whitworth
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Germline - - - - - DNA DGGE, SEQ - - MINAS - PubMed: Caldes 2002 - F - (Spain) - - - - - 1 James Whitworth
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Germline - - - - - DNA DGGE, SEQ - - MINAS - PubMed: Caldes 2002 - F - (Spain) - - - - - 1 James Whitworth
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Germline - - - - - DNA DGGE, SEQ - - MINAS - PubMed: Caldes 2002 - F - (Spain) - - - - - 1 James Whitworth
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Germline - - - - - DNA DGGE, SEQ - - MINAS - PubMed: Caldes 2002 - F - (Spain) - - - - - 1 James Whitworth
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - - Germline - - - - - DNA DGGE, SEQ - - MINAS - PubMed: Caldes 2002 - F - (Spain) - - - - - 1 James Whitworth
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown ENIGMA pathogenic g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 - - - rs28897696 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/+ 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic (dominant) g.41215920G>T g.43063903G>T - - BRCA1_000393 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 5 based on posterior probability = 1 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - rs28897696 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1488 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - rs28897696 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR0443 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - rs28897696 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1408 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - rs28897696 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR1092 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/+ 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T 5242C>A (A1708E) - BRCA1_000393 - PubMed: Torres 2007 - - Germline - 3/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam5 PubMed: Torres 2007 family, 7 affecteds - - Colombia Hispanic - - - - 7 Johan den Dunnen
+/+ 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T 5242C>A (A1708E) - BRCA1_000393 - PubMed: Torres 2007 - - Germline - 3/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam13 PubMed: Torres 2007 family, 4 affecteds - - Colombia Hispanic - - - - 4 Johan den Dunnen
+/+ 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T 5242C>A (A1708E) - BRCA1_000393 - PubMed: Torres 2007 - - Germline - 3/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam53 PubMed: Torres 2007 family, 2 affecteds - - Colombia Hispanic - - - - 2 Johan den Dunnen
+/+ 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 - PubMed: Briceno-Balcazar 2017 - - Germline - - - - - DNA PCR, SEQ blood - cancer, breast 29021639-Pat? PubMed: Briceno-Balcazar 2017 analysis 853 breast cancer cases - - Colombia - - - - - 27 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T BRCA1(NM_007294.3):c.5123C>A (p.A1708E), BRCA1(NM_007294.4):c.5123C>A (p.A1708E) - BRCA1_000393 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T BRCA1(NM_007294.3):c.5123C>A (p.A1708E), BRCA1(NM_007294.4):c.5123C>A (p.A1708E) - BRCA1_000393 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T BRCA1(NM_007294.3):c.5123C>A (p.A1708E), BRCA1(NM_007294.4):c.5123C>A (p.A1708E) - BRCA1_000393 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - 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
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 19 families F - Colombia Hispanic - - - - 19 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 9 families F - France white - - - - 9 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 13 families F - France unknown - - - - 13 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Germany unknown - - - - 4 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Italy Hispanic - - - - 1 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 18 families F - Italy white - - - - 18 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - 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
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Spain unknown - - - - 1 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 60 families F - Spain white - - - - 60 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - 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
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - 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
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - 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
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United Kingdom (Great Britain) white - - - - 3 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - 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
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - 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
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - 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
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 16 families F - United States Hispanic - - - - 16 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Venezuela Hispanic - - - - 1 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs28897696 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.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic (dominant) g.41215920G>T g.43063903G>T 5242C>A - BRCA1_000393 - PubMed: Laitman 2011 - rs28897696 Germline - - - - - DNA SEQ - - BROVCA 20960228-cas PubMed: Laitman 2011 cases F - Israel non-Jewish - - - - 2 Johan den Dunnen
+/. - c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic (dominant) g.41215920G>T g.43063903G>T 5242C>A - BRCA1_000393 - Journal: Laitman 2019 - rs28897696 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Israel - - - - - 1 Eitan Friedman
+/. - c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic (dominant) g.41215920G>T g.43063903G>T A1708E - BRCA1_000393 - Journal: Laitman 2019 - rs28897696 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Italy - - - - - 1 Eitan Friedman
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - - - rs28897696 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+?/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Schwartz 2019 - - Germline - - - - - DNA SEQ - - cancer - PubMed: Schwartz 2019 - - - - - - - - - 1 Mathias Schwartz
+/. - c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic (dominant) g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 7 families with BRCA1/BRCA2 variant carriers F - France - - - - - 7 Johan den Dunnen
+/. 18 c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - pathogenic (dominant) g.41215920G>T g.43063903G>T - - BRCA1_000393 - PubMed: Santonocito 2020 - rs28897696 Germline - 13/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 13 Johan den Dunnen
?/. - c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - NA g.41215920G>T - chr17_41215920_G_T - BRCA1_000393 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 - 7/60466 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 - 7 BRIDGES consortium
?/. - c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - NA g.41215920G>T - chr17_41215920_G_T - BRCA1_000393 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.5123C>A r.(?) p.(Ala1708Glu) - Unknown - pathogenic g.41215920G>T - BRCA1(NM_007294.3):c.5123C>A (p.A1708E), BRCA1(NM_007294.4):c.5123C>A (p.A1708E) - BRCA1_000393 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5123C>A r.(?) p.(Ala1708Glu) - Parent #1 - VUS g.41215920G>T g.43063903G>T - - BRCA1_000393 classified as class 3, 4 or 5 in 8/12850 targeted tests and 9/25800 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 - 17 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 17 UK Variant Sharing Initiative
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