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.

27 entries on 1 page. Showing entries 1 - 27.
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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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del 4964_4982del19 (del GTGGCCTGACCCCAGAAGA) - BRCA1_002119 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
+/+ 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic (dominant) g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Unknown - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - - - rs80359876 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR0635 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Unknown - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - - - rs80359876 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR0824 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Unknown - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - - - rs80359876 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR1349 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Unknown - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - - - rs80359876 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR1353 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Unknown - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - - - rs80359876 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR0610 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Unknown - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - - - rs80359876 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR1503 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Unknown - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - - - rs80359876 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR0352 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Brazil white - - - - 2 Johan den Dunnen
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - 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
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - Canada white - - - - 6 Johan den Dunnen
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France unknown - - - - 2 Johan den Dunnen
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 28 families F - Italy white - - - - 28 Johan den Dunnen
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - 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
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - 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
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - 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
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 25 families F - United States white - - - - 25 Johan den Dunnen
+/. - c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Unknown - pathogenic (dominant) g.41222949_41222967del g.43070932_43070950del 5083del19 - BRCA1_002119 - Journal: Laitman 2019 - rs80359876 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Greece - - - - - 1 Eitan Friedman
+/. - c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Unknown - pathogenic (dominant) g.41222949_41222967del g.43070932_43070950del 5083del19 - BRCA1_002119 - Journal: Laitman 2019 - rs80359876 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Italy - - - - - 1 Eitan Friedman
+/. - c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Unknown - pathogenic g.41222949_41222967del g.43070932_43070950del 4964_4982del19 - BRCA1_002119 - PubMed: Fostira 2020 - - Germline - - - - - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - - - - 1 Florentia Fostira
+/. - c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic (dominant) g.41222949_41222967del g.43070932_43070950del 4964_4982del19 - BRCA1_002119 - 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.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - VUS g.41222949_41222967del g.43070932_43070950del 4964_4982del19 - BRCA1_002119 classified as class 3, 4 or 5 in 8/12850 targeted tests and 2/25800 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 - 10 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 10 UK Variant Sharing Initiative
+/. 16 c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Parent #1 - pathogenic (dominant) g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - PubMed: Santonocito 2020 - rs80359876 Germline - 8/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 8 Johan den Dunnen
+/. - c.4964_4982del r.(?) p.(Ser1655Tyrfs*16) - Unknown - pathogenic (dominant) g.41222949_41222967del g.43070932_43070950del - - BRCA1_002119 - PubMed: Santonocito 2020 - rs80359876 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA Pat19 PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
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