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.

27 entries on 1 page. Showing entries 1 - 27.
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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)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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Consanguinity     

Country     

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Data_av     

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Panel size     

Owner     
+/+ 11 c.2477C>A r.(?) p.(Thr826Lys) - Unknown - pathogenic g.41245071G>T g.43093054G>T - - BRCA1_000206 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
-/- 11 c.2477C>A r.(=) p.(Thr826Lys) - Unknown - benign g.41245071G>T g.43093054G>T - - BRCA1_000206 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897683 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/? 11 c.2477C>A r.(?) p.(Thr826Lys) - Parent #1 - VUS g.41245071G>T g.43093054G>T - - BRCA1_000206 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/. 11 c.2477C>A r.(?) p.Thr826Lys - Unknown - NA g.41245071G>T g.43093054G>T T826K - BRCA1_000206 evolutionary conservation analysis; inconclusive PubMed: Burk-Herrick 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2477C>A r.(?) p.Thr826Lys - Unknown - NA g.41245071G>T g.43093054G>T T826K - BRCA1_000206 Multifactorial likelihood-ratio model; predicted neutral PubMed: Spurdle 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2477C>A r.(?) p.(Thr826Lys) - Unknown - benign g.41245071G>T g.43093054G>T - - BRCA1_000206 - shared by Quest Diagnostics - rs28897683 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/. 11 c.2477C>A r.(?) p.(Thr826Lys) - Parent #1 - VUS g.41245071G>T g.43093054G>T - - BRCA1_000206 found in patient with CHEK2 del Ex9-10! - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 11 c.2477C>A r.(?) p.(Thr826Lys) - Unknown kConFab likely benign g.41245071G>T g.43093054G>T 2596 C>A (T826K) - BRCA1_000206 - kConFab variant classification: LCS - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
?/-? 11 c.2477C>A r.(?) p.(Thr826Lys) - Parent #1 - VUS g.41245071G>T g.43093054G>T - - BRCA1_000206 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
?/. 11 c.2477C>A r.(?) p.(Thr826Lys) - Parent #1 - VUS g.41245071G>T g.43093054G>T - - BRCA1_000206 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
?/. 11 c.2477C>A r.(?) p.(Thr826Lys) - Unknown - VUS g.41245071G>T g.43093054G>T T826K - BRCA1_000206 - - - rs28897683 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2477C>A r.(?) p.(Thr826Lys) - Parent #1 - benign g.41245071G>T g.43093054G>T - - BRCA1_000206 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 = 0.00000000203 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2477C>A r.(?) p.(Thr826Lys) - Unknown - VUS g.41245071G>T g.43093054G>T - - BRCA1_000206 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-/. 11 c.2477C>A r.(?) p.(Thr826Lys) - Unknown - benign g.41245071G>T g.43093054G>T BRCA1(NM_007294.3):c.2477C>A (p.(Thr826Lys), p.T826K), BRCA1(NM_007294.4):c.2477C>A (p.T826K), BRCA1(NM_007300.4):c.2477C>A (p.T826K) - BRCA1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2477C>A r.(?) p.(Thr826Lys) - Unknown - benign g.41245071G>T g.43093054G>T - - BRCA1_000206 - - - rs28897683 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. - c.2477C>A r.(?) p.(Thr826Lys) - Unknown - likely benign g.41245071G>T g.43093054G>T BRCA1(NM_007294.3):c.2477C>A (p.(Thr826Lys), p.T826K), BRCA1(NM_007294.4):c.2477C>A (p.T826K), BRCA1(NM_007300.4):c.2477C>A (p.T826K) - BRCA1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2477C>A r.(?) p.(Thr826Lys) - Parent #1 - likely benign g.41245071G>T g.43093054G>T - - BRCA1_000206 - PubMed: Dean 2015 - rs28897683 Germline - - - - - DNA SEQ-NG-IT Saliva - cancer, breast - PubMed: Dean 2015 - F - United States Hispanic - - - - 1 Johan den Dunnen
?/. - c.2477C>A r.(?) p.(Thr826Lys) - Parent #1 - VUS g.41245071G>T g.43093054G>T - - BRCA1_000206 classified as class 3, 4 or 5 in 5/25800 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 - 5 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 5 UK Variant Sharing Initiative
+?/. - c.2477C>A r.(?) p.(Thr826Lys) - Paternal (confirmed) - VUS g.41245071G>T g.43093054G>T - - BRCA1_000206 - PubMed: Wagner 2020, Journal: Wagner 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD FamA PubMed: Wagner 2020, Journal: Wagner 2020 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Germany - - - - - 1 Johan den Dunnen
?/. - c.2477C>A r.(?) p.(Thr826Lys) - Parent #1 - NA g.41245071G>T - chr17_41245071_G_T - BRCA1_000206 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 - 34/60466 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 - 34 BRIDGES consortium
?/. - c.2477C>A r.(?) p.(Thr826Lys) - Parent #1 - NA g.41245071G>T - chr17_41245071_G_T - BRCA1_000206 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 - 28/53461 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 - 28 BRIDGES consortium
-?/. - c.2477C>A r.(?) p.(Thr826Lys) - Unknown - likely benign g.41245071G>T - BRCA1(NM_007294.3):c.2477C>A (p.(Thr826Lys), p.T826K), BRCA1(NM_007294.4):c.2477C>A (p.T826K), BRCA1(NM_007300.4):c.2477C>A (p.T826K) - BRCA1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2477C>A r.(?) p.(Thr826Lys) - Unknown - likely benign g.41245071G>T - BRCA1(NM_007294.3):c.2477C>A (p.(Thr826Lys), p.T826K), BRCA1(NM_007294.4):c.2477C>A (p.T826K), BRCA1(NM_007300.4):c.2477C>A (p.T826K) - BRCA1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2477C>A r.(?) p.(Thr826Lys) - Unknown - benign g.41245071G>T g.43093054G>T - - BRCA1_000206 - Nodo Argentina Varioma, unpublished - rs28897683 Germline - - - - - DNA SEQ - - BROVCA BR2962 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2477C>A r.(?) p.(Thr826Lys) - Unknown - benign g.41245071G>T g.43093054G>T - - BRCA1_000206 - Nodo Argentina Varioma, unpublished - rs28897683 Germline - - - - - DNA SEQ - - BROVCA BR3057 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2477C>A r.(?) p.(Thr826Lys) - Unknown - benign g.41245071G>T g.43093054G>T - - BRCA1_000206 - Nodo Argentina Varioma, unpublished - rs28897683 Germline - - - - - DNA SEQ - - BROVCA BR3202 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.2477C>A r.(?) p.(Thr826Lys) - Unknown - VUS g.41245071G>T - BRCA1(NM_007294.3):c.2477C>A (p.(Thr826Lys), p.T826K), BRCA1(NM_007294.4):c.2477C>A (p.T826K), BRCA1(NM_007300.4):c.2477C>A (p.T826K) - BRCA1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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