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.

56 entries on 1 page. Showing entries 1 - 56.
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AscendingDNA change (cDNA)     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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-/- 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - VUS g.41226488C>A g.43074471C>A 4654G>T - BRCA1_000324 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
-/- 15 c.4535G>T r.(=) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1800744 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Parent #1 - benign g.41226488C>A g.43074471C>A 4654G>T - BRCA1_000324 - UMD BRCA1 database - - Germline - - - - - DNA ? - - - - - - - - - - - - - - - -
-/- 15 c.4535G>T r.(?) p.(Ser1512Ile) - Parent #1 - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 15 c.4535G>T r.(?) p.(Ser1512Ile) - Parent #1 - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 15 c.4535G>T r.(?) p.(Ser1512Ile) - Parent #1 - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 15 c.4535G>T r.(?) p.(Ser1512Ile) - Parent #1 - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 15 c.4535G>T r.(?) p.(Ser1512Ile) - Parent #1 - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 15 c.4535G>T r.(?) p.(Ser1512Ile) - Parent #1 - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Parent #1 - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 15 c.4535G>T r.(?) p.Ser1512Ile - Unknown - NA g.41226488C>A g.43074471C>A S1512I - BRCA1_000324 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.Ser1512Ile - Unknown - NA g.41226488C>A g.43074471C>A S1512I - BRCA1_000324 Recombination rate; as wildtype control PubMed: Caligo 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.Ser1512Ile - Unknown - NA g.41226488C>A g.43074471C>A S1512I - BRCA1_000324 Clonogenic assay; as wildtype control PubMed: Caligo 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.Ser1512Ile - Unknown - NA g.41226488C>A g.43074471C>A 4654G/T (S1512I) - BRCA1_000324 Prevalence in normal controls; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.Ser1512Ile - Unknown - NA g.41226488C>A g.43074471C>A 4654G/T (S1512I) - BRCA1_000324 co-occurrence with deleterious variant; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.Ser1512Ile - Unknown - NA g.41226488C>A g.43074471C>A S1512I - BRCA1_000324 evolutionary conservation analysis; predicted neutral PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.4535G>T r.(?) p.Ser1512Ile - Unknown - NA g.41226488C>A g.43074471C>A S1512I - BRCA1_000324 - PubMed: Greenman 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.Ser1512Ile - Unknown - NA g.41226488C>A g.43074471C>A S1512I - BRCA1_000324 Prevalence in normal controls; predicted neutral PubMed: Osorio 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.Ser1512Ile - Unknown - NA g.41226488C>A g.43074471C>A 4654G/T (S1512I) - BRCA1_000324 Transcription activation in yeast (GAL4-fusions); as wildtype control PubMed: Phelan 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.Ser1512Ile - Unknown - NA g.41226488C>A g.43074471C>A S1512I - BRCA1_000324 Multifactorial likelihood-ratio model; predicted neutral PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - shared by Quest Diagnostics - rs1800744 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown kConFab likely benign g.41226488C>A g.43074471C>A 4654 G>T (S1512I) - BRCA1_000324 - kConFab variant classification: LCS - - Germline - 9/1658 - - - DNA SEQ - - cancer, breast - - 9 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 9 kConFab - Heather Thorne
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Parent #1 - benign g.41226488C>A g.43074471C>A 4654G>T-Ser1512Ile (S1512I) - BRCA1_000324 - - - rs1800744 Germline - - - - - DNA SEQ - - cancer, breast - - 12 families (BRCA1/2 screening) - - Greece - - - - - 12 Florentia Fostira
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown ENIGMA benign g.41226488C>A g.43074471C>A S1512I - BRCA1_000324 - - - rs1800744 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown ENIGMA benign g.41226488C>A g.43074471C>A S1512I - BRCA1_000324 - - - rs1800744 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown ENIGMA benign g.41226488C>A g.43074471C>A S1512I - BRCA1_000324 - - - rs1800744 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 15 c.4535G>T r.(?) p.(Ser1512Ile) - Parent #1 - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.00000000000309 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR0631 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR0877 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR1133 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR1481 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2077 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2078 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2079 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2084 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2087 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2100 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2101 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR1031 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2076 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2095 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2125 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A BRCA1(NM_007294.3):c.4535G>T (p.S1512I, p.(Ser1512Ile)), BRCA1(NM_007294.4):c.4535G>T (p.S1512I), BRCA1(NM_007300.3):c.4598G>T (p.S1533I) - BRCA1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A BRCA1(NM_007294.3):c.4535G>T (p.S1512I, p.(Ser1512Ile)), BRCA1(NM_007294.4):c.4535G>T (p.S1512I), BRCA1(NM_007300.3):c.4598G>T (p.S1533I) - BRCA1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A BRCA1(NM_007294.3):c.4535G>T (p.S1512I, p.(Ser1512Ile)), BRCA1(NM_007294.4):c.4535G>T (p.S1512I), BRCA1(NM_007300.3):c.4598G>T (p.S1533I) - BRCA1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - likely benign g.41226488C>A g.43074471C>A BRCA1(NM_007294.3):c.4535G>T (p.S1512I, p.(Ser1512Ile)), BRCA1(NM_007294.4):c.4535G>T (p.S1512I), BRCA1(NM_007300.3):c.4598G>T (p.S1533I) - BRCA1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A BRCA1(NM_007294.3):c.4535G>T (p.S1512I, p.(Ser1512Ile)), BRCA1(NM_007294.4):c.4535G>T (p.S1512I), BRCA1(NM_007300.3):c.4598G>T (p.S1533I) - BRCA1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - pathogenic (dominant) g.41226488C>A g.43074471C>A 4654G>T - BRCA1_000324 - PubMed: Al-Mulla 2009 - - Germline - - - - - DNA SEQ - - BROVCA 19329713-cas PubMed: Al-Mulla 2009 cases F - Kuwait - - - - - 1 Johan den Dunnen
?/. - c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - VUS g.41226488C>A g.43074471C>A - - BRCA1_000324 - PubMed: Dobricic 2013 - - Germline - - - - - DNA SEQ - - BROVCA 23635950-cas PubMed: Dobricic 2013 cases F - Serbia - - - - - 1 Johan den Dunnen
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - - - rs1800744 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A BRCA1(NM_007294.3):c.4535G>T (p.S1512I, p.(Ser1512Ile)), BRCA1(NM_007294.4):c.4535G>T (p.S1512I), BRCA1(NM_007300.3):c.4598G>T (p.S1533I) - BRCA1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A - BRCA1(NM_007294.3):c.4535G>T (p.S1512I, p.(Ser1512Ile)), BRCA1(NM_007294.4):c.4535G>T (p.S1512I), BRCA1(NM_007300.3):c.4598G>T (p.S1533I) - BRCA1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.4535G>T r.(?) p.(Ser1512Ile) - Unknown - benign g.41226488C>A g.43074471C>A - - BRCA1_000324 - Nodo Argentina Varioma, unpublished - rs1800744 Germline - - - - - DNA SEQ - - BROVCA BR3108 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.4535G>T r.(?) p.(Ser1512Ile) - Parent #1 - VUS g.41226488C>A g.43074471C>A - - BRCA1_000324 classified as class 1, 2, 3, 4 or 5 in 1/12850 targeted tests and 12/25800 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 - 13 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 13 UK Variant Sharing Initiative
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