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.

17 entries on 1 page. Showing entries 1 - 17.
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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.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic g.41246068G>A g.43094051G>A - - BRCA1_001793 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/. 11 c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic g.41246068G>A g.43094051G>A - - BRCA1_001793 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/. 11 c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic g.41246068G>A g.43094051G>A - - BRCA1_001793 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic (dominant) g.41246068G>A g.43094051G>A - - BRCA1_001793 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic g.41246068G>A g.43094051G>A - - BRCA1_001793 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France white - - - - 1 Johan den Dunnen
+/. 11 c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic g.41246068G>A g.43094051G>A - - BRCA1_001793 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - France unknown - - - - 6 Johan den Dunnen
+/. 11 c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic g.41246068G>A g.43094051G>A - - BRCA1_001793 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany unknown - - - - 1 Johan den Dunnen
+/. 11 c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic g.41246068G>A g.43094051G>A - - BRCA1_001793 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Korea Asian - - - - 1 Johan den Dunnen
+/. 11 c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic g.41246068G>A g.43094051G>A - - BRCA1_001793 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Lithuania white - - - - 1 Johan den Dunnen
+/. 11 c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic g.41246068G>A g.43094051G>A - - BRCA1_001793 - 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) white - - - - 1 Johan den Dunnen
+/. 11 c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic g.41246068G>A g.43094051G>A - - BRCA1_001793 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States white - - - - 3 Johan den Dunnen
+/. - c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic g.41246068G>A g.43094051G>A 1480C>T - BRCA1_001793 - PubMed: Bhaskaran 2019 - (refs 87) - rs80357010 Germline - 1/2991 cases - - - DNA SEQ-NG - - cancer, breast BRCA1-var143 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
+/. 11 c.1480C>T r.(?) p.(Gln494*) - Unknown - pathogenic g.41246068G>A g.43094051G>A - - BRCA1_001793 - - - rs80357010 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. - c.1480C>T r.(?) p.(Gln494*) - Parent #1 - pathogenic (dominant) g.41246068G>A g.43094051G>A - - BRCA1_001793 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 4 families with BRCA1/BRCA2 variant carriers F - France - - - - - 4 Johan den Dunnen
+/. 11 c.1480C>T r.(?) p.(Gln494*) - Unknown - pathogenic (dominant) g.41246068G>A g.43094051G>A - - BRCA1_001793 - Journal: Gao 2020 as reported in: PubMed: Lang 2017, Journal: Lang 2017 - - Germline - 1 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Lang 2017, Journal: Lang 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. - c.1480C>T r.(?) p.(Gln494*) - Parent #1 - NA g.41246068G>A - chr17_41246068_G_A - BRCA1_001793 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 - 1/60466 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 - 1 BRIDGES consortium
?/. - c.1480C>T r.(?) p.(Gln494*) - Parent #1 - NA g.41246068G>A - chr17_41246068_G_A - BRCA1_001793 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 - 1/53461 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 - 1 BRIDGES consortium
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