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.

28 entries on 1 page. Showing entries 1 - 28.
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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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VIP     

Data_av     

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Panel size     

Owner     
+/+ 11 c.962G>A r.(?) p.(Trp321*) - Unknown - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.962G>A r.(?) p.(Trp321*) - Unknown - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.962G>A r.(?) p.(Trp321*) - Unknown - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.962G>A r.(?) p.(Trp321*) - Unknown - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/. 11 c.962G>A r.(?) p.(Trp321*) - Unknown - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - - - - Germline - - - - - DNA HPLC, SEQ - - MINAS - PubMed: Heidemann 2012 - F - (Germany) - - - - - 1 James Whitworth
+/+ 11 c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic (dominant) g.41246586C>T g.43094569C>T - - BRCA1_001377 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.962G>A r.(?) p.(Trp321*) - Unknown - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Nienke van der Stoep
+/. 11 c.962G>A r.(?) p.(Trp321*) - Unknown - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Nienke van der Stoep
+/. 11 c.962G>A r.(?) p.(Trp321Ter) - Unknown - pathogenic g.41246586C>T g.43094569C>T BRCA1(NM_007294.3):c.962G>A (p.W321*, p.Trp321*), BRCA1(NM_007294.4):c.962G>A (p.W321*) - BRCA1_001377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.962G>A r.(?) p.(Trp321Ter) - Unknown - pathogenic g.41246586C>T g.43094569C>T BRCA1(NM_007294.3):c.962G>A (p.W321*, p.Trp321*), BRCA1(NM_007294.4):c.962G>A (p.W321*) - BRCA1_001377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 17 families F - Austria white - - - - 17 Johan den Dunnen
+/. 11 c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - Canada white - - - - 7 Johan den Dunnen
+/. 11 c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France unknown - - - - 1 Johan den Dunnen
+/. 11 c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France white - - - - 3 Johan den Dunnen
+/. 11 c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Germany white - - - - 2 Johan den Dunnen
+/. 11 c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - Germany unknown - - - - 5 Johan den Dunnen
+/. 11 c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Spain white - - - - 1 Johan den Dunnen
+/. 11 c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Sweden white - - - - 2 Johan den Dunnen
+/. 11 c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - United States white - - - - 6 Johan den Dunnen
+/. - c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic (dominant) g.41246586C>T g.43094569C>T - - BRCA1_001377 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
+/. - c.962G>A r.(?) p.(Trp321*) - Unknown ACMG pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 ACMG grading: PM2, PP5, PVS1; reported in Shattuck-Eidens 1997. JAMA 278: 1242-50; Wagner 1999. Genomics 62: 369-76; Oros 2004. Int J Cancer 112: 411-9; Kroiss 2005. Hum Mutat 26: 583-9 - - rs80357292 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.962G>A r.(?) p.(Trp321*) - Unknown ACMG pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 ACMG grading: PP5,PVS1,PM2; reported in Shattuck-Eidens 1997. JAMA 278: 1242-50; Wagner 1999. Genomics 62: 369-76; Oros 2004. Int J Cancer 112: 411-9; Kroiss 2005. Hum Mutat 26: 583-9 - - rs80357292 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+/. - c.962G>A r.(?) p.(Trp321Ter) - Unknown - pathogenic g.41246586C>T g.43094569C>T BRCA1(NM_007294.3):c.962G>A (p.W321*, p.Trp321*), BRCA1(NM_007294.4):c.962G>A (p.W321*) - BRCA1_001377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.962G>A r.(?) p.(Trp321*) - Parent #1 - VUS g.41246586C>T g.43094569C>T - - BRCA1_001377 classified as class 3, 4 or 5 in 2/12850 targeted tests and 1/25800 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 - 3 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 3 UK Variant Sharing Initiative
+/. - c.962G>A r.(?) p.(Trp321*) - Parent #1 - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80357292 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.962G>A r.(?) p.(Trp321Ter) - Unknown - VUS g.41246586C>T - BRCA1(NM_007294.3):c.962G>A (p.W321*, p.Trp321*), BRCA1(NM_007294.4):c.962G>A (p.W321*) - BRCA1_001377 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.962G>A r.(?) p.(Trp321Ter) - Unknown - pathogenic (dominant) g.41246586C>T g.43094569C>T 962G>A - BRCA1_001377 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 204 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. - c.962G>A r.(?) p.(Trp321Ter) - Parent #1 - pathogenic g.41246586C>T g.43094569C>T - - BRCA1_001377 - PubMed: Dong 2021 - rs80357292 Germline - 1/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1F F - China - - - - - 1 Johan den Dunnen
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