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.

20 entries on 1 page. Showing entries 1 - 20.
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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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Gender     

Consanguinity     

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VIP     

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Panel size     

Owner     
+/+ 11 c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Unknown - pathogenic g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - pathogenic g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Unknown kConFab pathogenic g.41244867_41244868del g.43092850_43092851del 2800_2801 del AA (STOP 901) - BRCA1_001657 - kConFab variant classification: P - - Germline - 4/1658 - - - DNA SEQ - - cancer, breast - - 4 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 4 kConFab - Heather Thorne
+/+ 11 c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Unknown kConFab pathogenic g.41244867_41244868del g.43092850_43092851del 2799_2800 del AA (STOP 901) - BRCA1_001657 - kConFab variant classification: P - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
+/+ 11 c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - pathogenic (dominant) g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - pathogenic g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada unknown - - - - 1 Johan den Dunnen
+/. 11 c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - pathogenic g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Canada white - - - - 5 Johan den Dunnen
+/. 11 c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - pathogenic g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) unknown - - - - 1 Johan den Dunnen
+/. 11 c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - pathogenic g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 38 families F - United Kingdom (Great Britain) white - - - - 38 Johan den Dunnen
+/. 11 c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - pathogenic g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 - 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.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - pathogenic g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States unknown - - - - 2 Johan den Dunnen
+/. 11 c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - pathogenic g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 29 families F - United States white - - - - 29 Johan den Dunnen
+/. - c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Unknown - pathogenic (dominant) g.41244867_41244868del g.43092850_43092851del 2800delAA - BRCA1_001657 - PubMed: Al-Mulla 2009 - - Germline - - - - - DNA SEQ - - BROVCA 19329713-cas PubMed: Al-Mulla 2009 cases F - Kuwait - - - - - 1 Johan den Dunnen
+/. - c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - pathogenic g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80357596 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - NA g.41244867_41244868del - chr17_41244865_GTT_G - BRCA1_001657 not in 53461 controls; 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 - 3/60466 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 - 3 BRIDGES consortium
?/. - c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Parent #1 - VUS g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 classified as class 3, 4 or 5 in 43/12850 targeted tests and 30/25800 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 - 73 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 73 UK Variant Sharing Initiative
+/. - c.2681_2682del r.(?) p.(Lys894ThrfsTer8) - Parent #1 ACMG pathogenic (dominant) g.41244867_41244868del g.43092850_43092851del - - BRCA1_001657 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat70 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Unknown - pathogenic g.41244867_41244868del - BRCA1(NM_007294.4):c.2681_2682del (p.Lys894ThrfsTer8), BRCA1(NM_007294.4):c.2681_2682delAA (p.K894Tfs*8) - BRCA1_001657 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2681_2682del r.(?) p.(Lys894Thrfs*8) FA Both (homozygous) - pathogenic (dominant) g.41244867_41244868del g.43092850_43092851del 2681_2682delAA - BRCA1_001657 - PubMed: Boyd 1995 - - Germline yes - - - - DNA SEQ - - BROVCA family PubMed: Boyd 1995 3 generation family 11 affected (8F, 3M) F - Scotland - - - - - 1 Johan den Dunnen
+/. - c.2681_2682del r.(?) p.(Lys894Thrfs*8) - Unknown - pathogenic g.41244867_41244868del - BRCA1(NM_007294.4):c.2681_2682del (p.Lys894ThrfsTer8), BRCA1(NM_007294.4):c.2681_2682delAA (p.K894Tfs*8) - BRCA1_001657 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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