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.

80 entries on 1 page. Showing entries 1 - 80.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

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Methylation     

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Disease     

ID_report     

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Owner     
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 transcription activation/PS/BA/BS; strong functional effect PubMed: Lee 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 - PubMed: Clapperton 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Easton 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Peptide binding ability; as variant control PubMed: Glover 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 family history; predicted deleterious PubMed: Gomez-Garcia 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Structure-based prediction (crystallography etc); predicted deleterious PubMed: Mirkovic 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 peptide binding ability BRCA1:BACH1; as variant control PubMed: Nikolopoulos 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Thermostability assay; as variant control PubMed: Nikolopoulos 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Multifactorial likelihood-ratio model; predicted deleterious PubMed: Osorio 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Thermodynamic stability prediction; moderately destabilizing PubMed: Rowling 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 peptide binding ability BRCA1:BACH1; predicted deleterious PubMed: Shiozaki 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Transcription activation in yeast (GAL4-fusions); as wildtype control PubMed: Vallon-Christersson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 structure-based prediction (crystallography etc) BRCA1-CtIP; predicted deleterious PubMed: Varma 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Structure-based prediction (crystallography etc); predicted deleterious PubMed: Williams 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Proteolytic degradation; inconclusive PubMed: Williams 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Bayesian statistics; predicted deleterious PubMed: Williams 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Peptide binding ability; as variant control PubMed: Williams 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Transcription activation in human cells; as variant control PubMed: Worley 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5095C>T r.(?) p.Arg1699Trp - Unknown - NA g.41215948G>A g.43063931G>A R1699W - BRCA1_000387 Transcription activation in yeast (GAL4-fusions); as variant control PubMed: Worley 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown kConFab pathogenic g.41215948G>A g.43063931G>A 5214 C>T (R1699W) - BRCA1_000387 - kConFab variant classification: P - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) FA Paternal (confirmed) - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Sawyer et al. 2015 - - Germline - - - - - DNA SEQ-NG whole blood - FANCS - PubMed: Sawyer 2015 - F no Finland - - - - - 1 Arleen D. Auerbach
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P13-3686 - 1 Arjen Mensenkamp
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic (dominant) g.41215948G>A g.43063931G>A - - BRCA1_000387 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.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - rs55770810 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1245 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/+ 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A C5214T - BRCA1_000387 - PubMed: Briceno-Balcazar 2017 - - Germline - - - - - DNA SEQ blood - cancer, breast 29021639-Pat? PubMed: Briceno-Balcazar 2017 analysis 256 breast cancer cases - - Colombia - - - - - 1 Johan den Dunnen
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A BRCA1(NM_007294.3):c.5095C>T (p.R1699W, p.(Arg1699Trp)), BRCA1(NM_007294.4):c.5095C>T (p.R1699W) - BRCA1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A BRCA1(NM_007294.3):c.5095C>T (p.R1699W, p.(Arg1699Trp)), BRCA1(NM_007294.4):c.5095C>T (p.R1699W) - BRCA1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A BRCA1(NM_007294.3):c.5095C>T (p.R1699W, p.(Arg1699Trp)), BRCA1(NM_007294.4):c.5095C>T (p.R1699W) - BRCA1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A BRCA1(NM_007294.3):c.5095C>T (p.R1699W, p.(Arg1699Trp)), BRCA1(NM_007294.4):c.5095C>T (p.R1699W) - BRCA1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Austria white - - - - 1 Johan den Dunnen
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France unknown - - - - 1 Johan den Dunnen
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - 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
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 11 families F - Germany unknown - - - - 11 Johan den Dunnen
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Nigeria unknown - - - - 1 Johan den Dunnen
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Russia white - - - - 1 Johan den Dunnen
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Spain white - - - - 3 Johan den Dunnen
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Sweden white - - - - 2 Johan den Dunnen
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Sweden unknown - - - - 4 Johan den Dunnen
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - 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
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States African American - - - - 1 Johan den Dunnen
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - 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
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States white - - - - 3 Johan den Dunnen
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A - - BRCA1_000387 not in 11241 controls PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs55770810 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.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic (dominant) g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Levant 2012 - - Germline - - - - - DNA SEQ - - BROVCA 22366370-cas PubMed: Levant 2012 family F - Croatia (Hrvatska) - - - - - 4 Johan den Dunnen
+/. - c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic (dominant) g.41215948G>A g.43063931G>A 5158C>T (Arg1720Trp ) - BRCA1_000387 - PubMed: Zorrieh Zahra 2016 - - Germline - - - - - DNA SEQ - - BROVCA 27478808-cas PubMed: Zorrieh Zahra 2016 male breast cancer M - Iran - - - - - 1 Johan den Dunnen
+/. - c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic (dominant) g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Laraqui 2013, Journal: Laitman 2019 - rs55770810 Germline - - - - - DNA SEQ - - BROVCA 23289006-cas PubMed: Laraqui 2013, Journal: Laitman 2019 family F - Morocco - - - - - 1 Eitan Friedman
+/. - c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic (dominant) g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Laraqui 2013, Journal: Laitman 2019 - rs55770810 Germline - - - - - DNA SEQ - - BROVCA 23289006-cas PubMed: Laraqui 2013, Journal: Laitman 2019 family F - Morocco - - - - - 1 Eitan Friedman
+/. - c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic (dominant) g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Alhugail 2018, Journal: Laitman 2019 - rs55770810 Germline - 2/173 cases - - - DNA SEQ - - BROVCA 29297111-cas PubMed: Alhugail 2018, Journal: Laitman 2019 cases F - Saudi Arabia Arab - - - - 2 Eitan Friedman
+/. - c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic g.41215948G>A g.43063931G>A 5095C>T - BRCA1_000387 - PubMed: Bhaskaran 2019 - (refs 89, 90) - rs55770810 Germline - 3/9001 cases - - - DNA SEQ - - cancer, breast BRCA1-var486 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 3 Johan den Dunnen
+/. - c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A g.43063931G>A BRCA1(NM_007294.3):c.5095C>T (p.R1699W, p.(Arg1699Trp)), BRCA1(NM_007294.4):c.5095C>T (p.R1699W) - BRCA1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic (dominant) g.41215948G>A g.43063931G>A - - BRCA1_000387 - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017 - - Germline - 3 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Sun 2017, Journal: Sun 2017 breast/ovarian cancer families/patients - - China - - - - - 3 Xianqi Gao
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - pathogenic (dominant) g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Santonocito 2020 - rs55770810 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.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic (dominant) g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Santonocito 2020 - rs55770810 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA Pat2 PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - NA g.41215948G>A - chr17_41215948_G_A - BRCA1_000387 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 - 2/60466 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 - 2 BRIDGES consortium
+/. - c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A - BRCA1(NM_007294.3):c.5095C>T (p.R1699W, p.(Arg1699Trp)), BRCA1(NM_007294.4):c.5095C>T (p.R1699W) - BRCA1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - likely pathogenic (dominant) g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Van Der Merwe 2022 - rs55770810 Germline - - - - - DNA SEQ - - BROVCA families PubMed: Van Der Merwe 2022 2 families F - South Africa - - - - - 2 Johan den Dunnen
?/. - c.5095C>T r.(?) p.(Arg1699Trp) - Parent #1 - VUS g.41215948G>A g.43063931G>A - - BRCA1_000387 classified as class 3, 4 or 5 in 13/12850 targeted tests and 4/25800 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
+/. 18 c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic (dominant) g.41215948G>A g.43063931G>A - - BRCA1_000387 - Nodo Argentina Varioma, unpublished - rs55770810 Germline - - - - - DNA SEQ - - BROVCA BR3083 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. - c.5095C>T r.(?) p.(Arg1699Trp) - Unknown - pathogenic g.41215948G>A - BRCA1(NM_007294.3):c.5095C>T (p.R1699W, p.(Arg1699Trp)), BRCA1(NM_007294.4):c.5095C>T (p.R1699W) - BRCA1_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5095C>T r.(?) p.(Arg1699Trp) FA Paternal (confirmed) - pathogenic (dominant) g.41215948G>A g.43063931G>A - - BRCA1_000387 - PubMed: Sawyer 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES FANC family PubMed: Sawyer 2015 3-generation family, 1 affected FA, 6 cancer (3F, 3M) F - Finland - 25y - - - 1 Johan den Dunnen
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