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.

45 entries on 1 page. Showing entries 1 - 45.
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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     

Remarks     

Gender     

Consanguinity     

Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 11 c.1648A>C r.(?) p.(Asn550His) - Unknown - VUS g.41245900T>G g.43093883T>G - - BRCA1_000160 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
-/- 11 c.1648A>C r.(=) p.(Asn550His) - Parent #1 - benign g.41245900T>G g.43093883T>G - - BRCA1_000160 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs56012641 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/. 11 c.1648A>C r.(?) p.(Asn550His) - Parent #1 - benign g.41245900T>G g.43093883T>G - - BRCA1_000160 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/. 11 c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G g.43093883T>G - - BRCA1_000160 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
?/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 Homology directed recombination; predicted no impact on protein function PubMed: Guidugli 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 Random plasmid integration assay; predicted no impact on protein function PubMed: Guidugli 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 - PubMed: Augello 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 - PubMed: Burk-Herrick 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 Recombination rate; as wildtype control PubMed: Caligo 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 Clonogenic assay; as wildtype control PubMed: Caligo 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 evolutionary conservation analysis; inconclusive PubMed: Judkins 2005a - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 co-occurrence with deleterious variant; predicted neutral PubMed: Judkins 2005a - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 co-occurrence with deleterious variant; predicted neutral PubMed: Judkins 2005b - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 evolutionary conservation analysis; predicted deleterious PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 Grantham score; predicted deleterious PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 Multifactorial likelihood-ratio model; predicted neutral PubMed: Osorio 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 Multifactorial likelihood-ratio model; predicted neutral PubMed: Spurdle 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1648A>C r.(?) p.Asn550His - Unknown - NA g.41245900T>G g.43093883T>G N550H - BRCA1_000160 Multifactorial likelihood-ratio model; inconclusive PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G g.43093883T>G - - BRCA1_000160 - shared by Quest Diagnostics - rs56012641 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.1648A>C r.(?) p.(Asn550His) - Unknown kConFab likely benign g.41245900T>G g.43093883T>G 1767 A>C (N550H) - BRCA1_000160 - 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.1648A>C r.(?) p.(Asn550His) - Parent #1 - VUS g.41245900T>G g.43093883T>G 1767A>C-Asn550His (N550H) - BRCA1_000160 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 7 families (BRCA1/2 screening) - - Greece - - - - - 7 Florentia Fostira
-/. 11 c.1648A>C r.(?) p.(Asn550His) - Unknown ENIGMA benign g.41245900T>G g.43093883T>G N550H - BRCA1_000160 - - - rs56012641 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.1648A>C r.(?) p.(Asn550His) - Parent #1 - benign g.41245900T>G g.43093883T>G - - BRCA1_000160 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 = 0.00000000000163 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G g.43093883T>G - - BRCA1_000160 - - - rs56012641 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1389 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G g.43093883T>G - - BRCA1_000160 - - - rs56012641 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1047 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G g.43093883T>G - - BRCA1_000160 - - - rs56012641 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1374 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G g.43093883T>G BRCA1(NM_007294.3):c.1648A>C (p.N550H, p.(Asn550His)), BRCA1(NM_007294.4):c.1648A>C (p.N550H) - BRCA1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1648A>C r.(?) p.(Asn550His) - Unknown - likely benign g.41245900T>G g.43093883T>G - - BRCA1_000160 - PubMed: Dodova 2015 - - Germline - - - - - DNA SEQ - - BROVCA 26183948-cas PubMed: Dodova 2015 cases F - Bulgaria - - - - - 1 Johan den Dunnen
?/. - c.1648A>C r.(?) p.(Asn550His) - Unknown - VUS g.41245900T>G g.43093883T>G 1767A>C - BRCA1_000160 - PubMed: Jalkh 2012 - - Germline - - - - - DNA SEQ - - BROVCA 22713736-cas PubMed: Jalkh 2012 cases F - Lebanon - - - - - 2 Johan den Dunnen
+/. - c.1648A>C r.(?) p.(Asn550His) - Parent #1 - pathogenic (dominant) g.41245900T>G g.43093883T>G 1767A>C - BRCA1_000160 - PubMed: Laitman 2011 - - Germline - - - - - DNA SEQ - - BROVCA 20960228-cas PubMed: Laitman 2011 cases F - Israel non-Jewish - - - - 2 Johan den Dunnen
+/. - c.1648A>C r.(?) p.(Asn550His) - Parent #1 - pathogenic (dominant) g.41245900T>G g.43093883T>G 1767A>C - BRCA1_000160 - PubMed: Laitman 2011 - - Germline - - - - - DNA SEQ - - BROVCA 20960228-cas PubMed: Laitman 2011 cases F - Israel Muslem - - - - 1 Johan den Dunnen
?/. - c.1648A>C r.(?) p.(Asn550His) - Unknown - VUS g.41245900T>G g.43093883T>G - - BRCA1_000160 - PubMed: Mahfoudh 2012 - - Germline - - - - - DNA SEQ - - BROVCA 21603858-cas PubMed: Mahfoudh 2012 cases F - Tunisia - - - - - 1 Johan den Dunnen
?/. - c.1648A>C r.(?) p.(Asn550His) - Unknown - VUS g.41245900T>G g.43093883T>G - - BRCA1_000160 - PubMed: Troudi 2007 - - Germline - 1/36 cases - - - DNA SEQ - - BROVCA 17922257-cas PubMed: Troudi 2007 cases F - Tunisia - - - - - 1 Johan den Dunnen
?/. - c.1648A>C r.(?) p.(Asn550His) - Unknown - VUS g.41245900T>G g.43093883T>G 1767C>T (Asn550His ) - BRCA1_000160 - PubMed: El-Harith 2002, Journal: Laitman 2019 - - Germline - 1/29 cases - - - DNA SEQ - - BROVCA 12070551-cas PubMed: El-Harith 2002, Journal: Laitman 2019 cases F - Saudi Arabia Arab - - - - 1 Eitan Friedman
-/. 11 c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G g.43093883T>G - - BRCA1_000160 - - - rs56012641 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G g.43093883T>G BRCA1(NM_007294.3):c.1648A>C (p.N550H, p.(Asn550His)), BRCA1(NM_007294.4):c.1648A>C (p.N550H) - BRCA1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G g.43093883T>G BRCA1(NM_007294.3):c.1648A>C (p.N550H, p.(Asn550His)), BRCA1(NM_007294.4):c.1648A>C (p.N550H) - BRCA1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G g.43093883T>G BRCA1(NM_007294.3):c.1648A>C (p.N550H, p.(Asn550His)), BRCA1(NM_007294.4):c.1648A>C (p.N550H) - BRCA1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1648A>C r.(?) p.(Asn550His) - Parent #1 - VUS g.41245900T>G g.43093883T>G - - BRCA1_000160 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.1648A>C r.(?) p.(Asn550His) - Parent #1 - NA g.41245900T>G - chr17_41245900_T_G - BRCA1_000160 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 - 70/60466 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 - 70 BRIDGES consortium
?/. - c.1648A>C r.(?) p.(Asn550His) - Parent #1 - NA g.41245900T>G - chr17_41245900_T_G - BRCA1_000160 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 - 44/53461 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 - 44 BRIDGES consortium
-/. - c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G - BRCA1(NM_007294.3):c.1648A>C (p.N550H, p.(Asn550His)), BRCA1(NM_007294.4):c.1648A>C (p.N550H) - BRCA1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G - BRCA1(NM_007294.3):c.1648A>C (p.N550H, p.(Asn550His)), BRCA1(NM_007294.4):c.1648A>C (p.N550H) - BRCA1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G g.43093883T>G - - BRCA1_000160 - Nodo Argentina Varioma, unpublished - rs56012641 Germline - - - - - DNA SEQ - - BROVCA BR3031 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.1648A>C r.(?) p.(Asn550His) - Unknown - benign g.41245900T>G - BRCA1(NM_007294.3):c.1648A>C (p.N550H, p.(Asn550His)), BRCA1(NM_007294.4):c.1648A>C (p.N550H) - BRCA1_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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