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.

31 entries on 1 page. Showing entries 1 - 31.
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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)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

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-/- 11 c.3418A>G r.(=) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs2227945 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Parent #1 - VUS g.41244130T>C g.43092113T>C - - BRCA1_000252 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 11 c.3418A>G r.(?) p.Ser1140Gly - Unknown - NA g.41244130T>C g.43092113T>C S1140G - BRCA1_000252 - PubMed: Johnson 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.3418A>G r.(?) p.Ser1140Gly - Unknown - NA g.41244130T>C g.43092113T>C S1140G - BRCA1_000252 - PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3418A>G r.(?) p.Ser1140Gly - Unknown - NA g.41244130T>C g.43092113T>C S1140G - BRCA1_000252 Multifactorial likelihood-ratio model; predicted neutral PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - shared by Quest Diagnostics - rs2227945 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Parent #1 - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Parent #1 - VUS g.41244130T>C g.43092113T>C 3537A>G (S1140G) - BRCA1_000252 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
?/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - VUS g.41244130T>C g.43092113T>C S1140G - BRCA1_000252 - - - rs2227945 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3418A>G r.(?) p.(Ser1140Gly) - Parent #1 - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 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 = 0.00000592. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.04878 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - - - rs2227945 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0980 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - - - rs2227945 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1016 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - - - rs2227945 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1555 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - - - rs2227945 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0643 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - - - rs2227945 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR2128 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - VUS g.41244130T>C g.43092113T>C - - BRCA1_000252 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - VUS g.41244130T>C g.43092113T>C - - BRCA1_000252 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C BRCA1(NM_007294.3):c.3418A>G (p.S1140G, p.(Ser1140Gly)), BRCA1(NM_007294.4):c.3418A>G (p.S1140G), BRCA1(NM_007300.4):c.3418A>G (p.S1140G) - BRCA1_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C BRCA1(NM_007294.3):c.3418A>G (p.S1140G, p.(Ser1140Gly)), BRCA1(NM_007294.4):c.3418A>G (p.S1140G), BRCA1(NM_007300.4):c.3418A>G (p.S1140G) - BRCA1_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C BRCA1(NM_007294.3):c.3418A>G (p.S1140G, p.(Ser1140Gly)), BRCA1(NM_007294.4):c.3418A>G (p.S1140G), BRCA1(NM_007300.4):c.3418A>G (p.S1140G) - BRCA1_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3418A>G r.(?) p.(Ser1140Gly) - Parent #1 - benign g.41244130T>C g.43092113T>C 3418A>G - BRCA1_000252 - PubMed: Bhaskaran 2019 - (refs) - rs2227945 Germline - - - - - DNA SSCA - - cancer, breast BRCA1-var312 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - - - rs2227945 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.3418A>G r.(?) p.(Ser1140Gly) - Parent #1 - VUS g.41244130T>C g.43092113T>C - - BRCA1_000252 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.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C - BRCA1(NM_007294.3):c.3418A>G (p.S1140G, p.(Ser1140Gly)), BRCA1(NM_007294.4):c.3418A>G (p.S1140G), BRCA1(NM_007300.4):c.3418A>G (p.S1140G) - BRCA1_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3418A>G r.(?) p.(Ser1140Gly) - Parent #1 - NA g.41244130T>C - chr17_41244130_T_C - BRCA1_000252 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 - 22/60466 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 - 22 BRIDGES consortium
?/. - c.3418A>G r.(?) p.(Ser1140Gly) - Parent #1 - NA g.41244130T>C - chr17_41244130_T_C - BRCA1_000252 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 - 18/53461 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 - 18 BRIDGES consortium
-/. - c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C - BRCA1(NM_007294.3):c.3418A>G (p.S1140G, p.(Ser1140Gly)), BRCA1(NM_007294.4):c.3418A>G (p.S1140G), BRCA1(NM_007300.4):c.3418A>G (p.S1140G) - BRCA1_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - Nodo Argentina Varioma, unpublished - rs2227945 Germline - - - - - DNA SEQ - - BROVCA BR3325 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - Nodo Argentina Varioma, unpublished - rs2227945 Germline - - - - - DNA SEQ - - BROVCA BR3330 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - benign g.41244130T>C g.43092113T>C - - BRCA1_000252 - Nodo Argentina Varioma, unpublished - rs2227945 Germline - - - - - DNA SEQ - - BROVCA BR3414 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. - c.3418A>G r.(?) p.(Ser1140Gly) - Unknown - likely benign g.41244130T>C - BRCA1(NM_007294.3):c.3418A>G (p.S1140G, p.(Ser1140Gly)), BRCA1(NM_007294.4):c.3418A>G (p.S1140G), BRCA1(NM_007300.4):c.3418A>G (p.S1140G) - BRCA1_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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