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.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

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Owner     
-/- 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
-/- 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
-/- 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
-/- 11 c.3024G>A r.(=) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1800704 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Parent #1 - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
?/? 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - VUS g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
-/. 11 c.3024G>A r.(?) p.Met1008Ile - Unknown - NA g.41244524C>T g.43092507C>T M1008I - BRCA1_000224 evolutionary conservation analysis; predicted neutral PubMed: Abkevich 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3024G>A r.(?) p.Met1008Ile - Unknown - NA g.41244524C>T g.43092507C>T M1008I - BRCA1_000224 co-occurrence with deleterious variant; predicted neutral PubMed: Judkins 2005a - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3024G>A r.(?) p.Met1008Ile - Unknown - NA g.41244524C>T g.43092507C>T M1008I - BRCA1_000224 co-occurrence with deleterious variant; predicted neutral PubMed: Judkins 2005b - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3024G>A r.(?) p.Met1008Ile - Unknown - NA g.41244524C>T g.43092507C>T M1008I - BRCA1_000224 evolutionary conservation analysis; predicted neutral PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3024G>A r.(?) p.Met1008Ile - Unknown - NA g.41244524C>T g.43092507C>T M1008I - BRCA1_000224 Grantham score; predicted neutral PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.3024G>A r.(?) p.Met1008Ile - Unknown - NA g.41244524C>T g.43092507C>T M1008I - BRCA1_000224 - PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3024G>A r.(?) p.Met1008Ile - Unknown - NA g.41244524C>T g.43092507C>T M1008I - BRCA1_000224 Multifactorial likelihood-ratio model; predicted neutral PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - shared by Quest Diagnostics - rs1800704 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown kConFab likely benign g.41244524C>T g.43092507C>T 3143 G>A (M1008I) - BRCA1_000224 - kConFab variant classification: LCS - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown ENIGMA benign g.41244524C>T g.43092507C>T M1008I - BRCA1_000224 - - - rs1800704 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.3024G>A r.(?) p.(Met1008Ile) - Parent #1 - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 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 = 0.0000000196 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - rs1800704 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1533 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - rs1800704 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1141 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - rs1800704 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0665 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - rs1800704 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1020 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - rs1800704 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0506 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T BRCA1(NM_007294.3):c.3024G>A (p.M1008I, p.(Met1008Ile)), BRCA1(NM_007294.4):c.3024G>A (p.M1008I), BRCA1(NM_007300.4):c.3024G>A (p.M1008I) - BRCA1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T BRCA1(NM_007294.3):c.3024G>A (p.M1008I, p.(Met1008Ile)), BRCA1(NM_007294.4):c.3024G>A (p.M1008I), BRCA1(NM_007300.4):c.3024G>A (p.M1008I) - BRCA1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - VUS g.41244524C>T g.43092507C>T BRCA1(NM_007294.3):c.3024G>A (p.M1008I, p.(Met1008Ile)), BRCA1(NM_007294.4):c.3024G>A (p.M1008I), BRCA1(NM_007300.4):c.3024G>A (p.M1008I) - BRCA1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T BRCA1(NM_007294.3):c.3024G>A (p.M1008I, p.(Met1008Ile)), BRCA1(NM_007294.4):c.3024G>A (p.M1008I), BRCA1(NM_007300.4):c.3024G>A (p.M1008I) - BRCA1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - - - rs1800704 Germline - 7/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.3024G>A r.(?) p.(Met1008Ile) - Parent #1 - VUS g.41244524C>T g.43092507C>T - - BRCA1_000224 classified as class 1, 2, 3, 4 or 5 in 6/25800 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 - 6 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 6 UK Variant Sharing Initiative
?/. - c.3024G>A r.(?) p.(Met1008Ile) - Parent #1 - NA g.41244524C>T - chr17_41244524_C_T - BRCA1_000224 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 - 44/60466 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 - 44 BRIDGES consortium
?/. - c.3024G>A r.(?) p.(Met1008Ile) - Parent #1 - NA g.41244524C>T - chr17_41244524_C_T - BRCA1_000224 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 - 34/53461 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 - 34 BRIDGES consortium
-/. - c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T - BRCA1(NM_007294.3):c.3024G>A (p.M1008I, p.(Met1008Ile)), BRCA1(NM_007294.4):c.3024G>A (p.M1008I), BRCA1(NM_007300.4):c.3024G>A (p.M1008I) - BRCA1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.3024G>A r.(?) p.(Met1008Ile) - Unknown - benign g.41244524C>T g.43092507C>T - - BRCA1_000224 - Nodo Argentina Varioma, unpublished - rs1800704 Germline - - - - - DNA SEQ - - BROVCA BR3025 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.3024G>A r.(?) p.(Met1008Ile) - Unknown - VUS g.41244524C>T - BRCA1(NM_007294.3):c.3024G>A (p.M1008I, p.(Met1008Ile)), BRCA1(NM_007294.4):c.3024G>A (p.M1008I), BRCA1(NM_007300.4):c.3024G>A (p.M1008I) - BRCA1_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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