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.

61 entries on 1 page. Showing entries 1 - 61.
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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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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Re-site     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

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Owner     
+/+ 11 c.1961del r.(?) p.(Lys664fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1961del r.(?) p.(lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1961del r.(?) p.(lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1961del r.(?) p.(Lys654fs) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/. 11 c.1961del r.(?) p.Lys654fs - Unknown - NA g.41245594del g.43093577del 2080delA - BRCA1_000177 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 11 c.1961del r.(?) p.(Lys654Serfs*47) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Augustyn 2011 - - Germline - - - - - DNA SEQ - - MINAS - PubMed: Augustyn 2011 - F - (United States) - - - - - 1 James Whitworth
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic (dominant) g.41245594del g.43093577del - - BRCA1_000177 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Unknown - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 11 c.1961del r.(?) p.(Lys654SerfsTer47) - Unknown - pathogenic g.41245594del g.43093577del BRCA1(NM_007294.3):c.1961delA (p.K654Sfs*47), BRCA1(NM_007294.4):c.1961delA (p.K654Sfs*47) - BRCA1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1961del r.(?) p.(Lys654SerfsTer47) - Unknown - pathogenic g.41245594del g.43093577del BRCA1(NM_007294.3):c.1961delA (p.K654Sfs*47), BRCA1(NM_007294.4):c.1961delA (p.K654Sfs*47) - BRCA1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1961del r.(?) p.(Lys654SerfsTer47) - Unknown - pathogenic g.41245594del g.43093577del BRCA1(NM_007294.3):c.1961delA (p.K654Sfs*47), BRCA1(NM_007294.4):c.1961delA (p.K654Sfs*47) - BRCA1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Denmark white - - - - 1 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France Asian - - - - 1 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - France white - - - - 6 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - France unknown - - - - 8 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany white - - - - 1 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - Germany unknown - - - - 6 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Italy white - - - - 2 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Korea Asian - - - - 4 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Russia white - - - - 1 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Spain white - - - - 5 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 12 families F - United Kingdom (Great Britain) white - - - - 12 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Hispanic - - - - 1 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States unknown - - - - 1 Johan den Dunnen
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - pathogenic g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 10 families F - United States white - - - - 10 Johan den Dunnen
+/. - c.1961del r.(?) p.(Lys654Serfs*47) - Unknown - pathogenic (dominant) g.41245594del g.43093577del 2080delA - BRCA1_000177 - PubMed: Al-Mulla 2009 - - Germline - - - - - DNA SEQ - - BROVCA 19329713-cas PubMed: Al-Mulla 2009 cases F - Kuwait - - - - - 1 Johan den Dunnen
+/. - c.1961del r.(?) p.(Lys654Serfs*47) - Unknown - pathogenic (dominant) g.41245594del g.43093577del 2080delA - BRCA1_000177 - Journal: Laitman 2019 - rs80357522 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Iran - - - - - 1 Eitan Friedman
+/. 11 c.1961del r.(?) p.(Lys654Serfs*47) - Unknown - pathogenic (dominant) g.41245594del g.43093577del 1961delA - BRCA1_000177 - Journal: Gao 2020 as reported in: PubMed: Shi 2017, Journal: Shi 2017 - - Germline - 1 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Shi 2017, Journal: Shi 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
+/. - c.1961del r.(?) p.(Lys654SerfsTer47) - Unknown - pathogenic g.41245594del - BRCA1(NM_007294.3):c.1961delA (p.K654Sfs*47), BRCA1(NM_007294.4):c.1961delA (p.K654Sfs*47) - BRCA1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - NA g.41245594del - chr17_41245586_CT_C - BRCA1_000177 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 - 7/60466 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 - 7 BRIDGES consortium
?/. - c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - NA g.41245594del - chr17_41245586_CT_C - BRCA1_000177 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 - 8/53461 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 - 8 BRIDGES consortium
?/. - c.1961del r.(?) p.(Lys654Serfs*47) - Parent #1 - VUS g.41245594del g.43093577del - - BRCA1_000177 classified as class 3, 4 or 5 in 15/12850 targeted tests and 13/25800 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 - 28 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 28 UK Variant Sharing Initiative
+/. 11 c.1961del r.(?) p.(Lys654SerfsTer47) - Unknown - pathogenic (dominant) g.41245594del g.43093577del 1961delA - BRCA1_000177 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 149 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.1961del r.(?) p.(Lys654SerfsTer47) - Unknown - pathogenic (dominant) g.41245594del g.43093577del 1961delA - BRCA1_000177 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 201 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.1961del r.(?) p.(Lys654SerfsTer47) - Unknown - pathogenic (dominant) g.41245594del g.43093577del 1961delA - BRCA1_000177 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 205 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.1961del r.(?) p.(Lys654SerfsTer47) - Unknown IARC pathogenic g.41245594del g.43093577del 1961delA - BRCA1_000177 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
+/. - c.1961del r.(?) p.(Lys654SerfsTer47) - Parent #1 ACMG pathogenic (dominant) g.41245594del g.43093577del - - BRCA1_000177 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat82 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1961del r.(?) p.(Lys654SerfsTer47) - Unknown - pathogenic g.41245594del - BRCA1(NM_007294.3):c.1961delA (p.K654Sfs*47), BRCA1(NM_007294.4):c.1961delA (p.K654Sfs*47) - BRCA1_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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