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.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

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-/- 11 c.2458A>G r.(=) p.(Lys820Glu) - Unknown - benign g.41245090T>C g.43093073T>C - - BRCA1_000204 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs56082113 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/. 11 c.2458A>G r.(?) p.(Lys820Glu) - Parent #1 - VUS g.41245090T>C g.43093073T>C - - BRCA1_000204 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 11 c.2458A>G r.(?) p.(Lys820Glu) - Unknown - benign g.41245090T>C g.43093073T>C K820E - BRCA1_000204 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
-/. 11 c.2458A>G r.(?) p.Lys820Glu - Unknown - NA g.41245090T>C g.43093073T>C K820E - BRCA1_000204 co-immunoprecipitation BRCA1-FANCA; as wildtype control PubMed: Folias 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2458A>G r.(?) p.Lys820Glu - Unknown - NA g.41245090T>C g.43093073T>C K820E - BRCA1_000204 - PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2458A>G r.(?) p.Lys820Glu - Unknown - NA g.41245090T>C g.43093073T>C K820E - BRCA1_000204 Multifactorial likelihood-ratio model; predicted neutral PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2458A>G r.(?) p.(Lys820Glu) - Unknown - benign g.41245090T>C g.43093073T>C - - BRCA1_000204 - shared by Quest Diagnostics - rs56082113 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.2458A>G r.(?) p.(Lys820Glu) - Parent #1 - benign g.41245090T>C g.43093073T>C - - BRCA1_000204 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 = 0.00000000000204. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.06098 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2458A>G r.(?) p.(Lys820Glu) - Unknown - benign g.41245090T>C g.43093073T>C - - BRCA1_000204 - - - rs16940 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1244 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2458A>G r.(?) p.(Lys820Glu) - Unknown - benign g.41245090T>C g.43093073T>C BRCA1(NM_007294.3):c.2458A>G (p.K820E, p.(Lys820Glu), p.Lys820Glu), BRCA1(NM_007294.4):c.2458A>G (p.K820E) - BRCA1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2458A>G r.(?) p.(Lys820Glu) - Unknown - benign g.41245090T>C g.43093073T>C BRCA1(NM_007294.3):c.2458A>G (p.K820E, p.(Lys820Glu), p.Lys820Glu), BRCA1(NM_007294.4):c.2458A>G (p.K820E) - BRCA1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2458A>G r.(?) p.(Lys820Glu) - Unknown - benign g.41245090T>C g.43093073T>C BRCA1(NM_007294.3):c.2458A>G (p.K820E, p.(Lys820Glu), p.Lys820Glu), BRCA1(NM_007294.4):c.2458A>G (p.K820E) - BRCA1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2458A>G r.(?) p.(Lys820Glu) - Parent #1 - VUS g.41245090T>C g.43093073T>C - - BRCA1_000204 classified as class 1, 2, 3, 4 or 5 in 3/25800 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.2458A>G r.(?) p.(Lys820Glu) - Parent #1 - NA g.41245090T>C - chr17_41245090_T_C - BRCA1_000204 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
?/. - c.2458A>G r.(?) p.(Lys820Glu) - Parent #1 - NA g.41245090T>C - chr17_41245090_T_C - BRCA1_000204 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 - 7/53461 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 - 7 BRIDGES consortium
-/. - c.2458A>G r.(?) p.(Lys820Glu) - Unknown - benign g.41245090T>C - BRCA1(NM_007294.3):c.2458A>G (p.K820E, p.(Lys820Glu), p.Lys820Glu), BRCA1(NM_007294.4):c.2458A>G (p.K820E) - BRCA1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2458A>G r.(?) p.(Lys820Glu) - Unknown - benign g.41245090T>C - BRCA1(NM_007294.3):c.2458A>G (p.K820E, p.(Lys820Glu), p.Lys820Glu), BRCA1(NM_007294.4):c.2458A>G (p.K820E) - BRCA1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2458A>G r.(?) p.(Lys820Glu) - Unknown - benign g.41245090T>C - BRCA1(NM_007294.3):c.2458A>G (p.K820E, p.(Lys820Glu), p.Lys820Glu), BRCA1(NM_007294.4):c.2458A>G (p.K820E) - BRCA1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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