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.

39 entries on 1 page. Showing entries 1 - 39.
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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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Owner     
+/+ 11 c.798_799del r.(?) p.(Ser267fs) - Unknown - pathogenic g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.798_799del r.(?) p.(Ser267fs) - Unknown - pathogenic g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown kConFab pathogenic g.41246750_41246751del g.43094733_43094734del 917_918 del TT (STOP 285) - BRCA1_001276 - 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.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic g.41246750_41246751del g.43094733_43094734del Val266_ser267valglysfs, 917delTT - BRCA1_001276 - - - - Germline - - - - - DNA SEQ - - BROVCA1 - - - - - Argentina European - - - - 1 Roxana Cerretini
+/+ 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic g.41246750_41246751del g.43094733_43094734del delAA - BRCA1_001276 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Nienke van der Stoep
+/. 11 c.798_799del r.(?) p.(Ser267LysfsTer19) - Unknown - pathogenic g.41246750_41246751del g.43094733_43094734del BRCA1(NM_007294.3):c.798_799del (p.(Ser267LysfsTer19)), BRCA1(NM_007294.4):c.798_799delTT (p.S267Kfs*19) - BRCA1_001276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada white - - - - 1 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Czech Republic white - - - - 1 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 9 families F - France white - - - - 9 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 14 families F - France unknown - - - - 14 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - 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.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Germany unknown - - - - 2 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 19 families F - Italy white - - - - 19 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Spain unknown - - - - 2 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Spain white - - - - 4 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United Kingdom (Great Britain) white - - - - 3 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States unknown - - - - 3 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - United States white - - - - 8 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - United States Hispanic - - - - 8 Johan den Dunnen
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 917_918delTT - BRCA1_001276 - PubMed: Al-Mulla 2009 - - Germline - - - - - DNA SEQ - - BROVCA 19329713-cas PubMed: Al-Mulla 2009 cases F - Kuwait - - - - - 1 Johan den Dunnen
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - PubMed: Cherbal 2010 - rs80357724 Germline - - - - - DNA SEQ - - BROVCA 20683152-cas PubMed: Cherbal 2010 family F - Algeria - - - - - 1 Johan den Dunnen
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - PubMed: Cherbal 2010 - rs80357724 Germline - - - - - DNA SEQ - - BROVCA 20683152-cas PubMed: Cherbal 2010 family F - Algeria - - - - - 1 Johan den Dunnen
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - PubMed: Uhrhammer 2008 - rs80357724 Germline - - - - - DNA SEQ - - BROVCA 18645608-cas PubMed: Uhrhammer 2008 family F - Algeria - - - - - 4 Johan den Dunnen
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - PubMed: Uhrhammer 2008 - rs80357724 Germline - - - - - DNA SEQ - - BROVCA 18645608-cas PubMed: Uhrhammer 2008 family F - Algeria - - - - - 4 Johan den Dunnen
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 917delTT - BRCA1_001276 - Journal: Laitman 2019 - rs80357724 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Italy - - - - - 1 Eitan Friedman
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - PubMed: Laraqui 2013, Journal: Laitman 2019 - rs80357724 Germline - - - - - DNA SEQ - - BROVCA 23289006-cas PubMed: Laraqui 2013, Journal: Laitman 2019 family F - Morocco - - - - - 1 Eitan Friedman
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - PubMed: Laraqui 2013, Journal: Laitman 2019 - rs80357724 Germline - - - - - DNA SEQ - - BROVCA 23289006-cas PubMed: Laraqui 2013, Journal: Laitman 2019 family F - Morocco - - - - - 1 Eitan Friedman
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - PubMed: Tazzite 2012, Journal: Laitman 2019 - rs80357724 Germline - - - - - DNA SEQ - - BROVCA 22425665-cas PubMed: Tazzite 2012, Journal: Laitman 2019 family F - Morocco Arab - - - - 3 Eitan Friedman
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - PubMed: Mahfoudh 2012, Journal: Laitman 2019 - rs80357724 Germline - 1/16 case families - - - DNA SEQ - - BROVCA 21603858-cas PubMed: Mahfoudh 2012, Journal: Laitman 2019 family F - Tunisia - - - - - 3 Eitan Friedman
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 9 families with BRCA1/BRCA2 variant carriers F - France - - - - - 9 Johan den Dunnen
?/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - VUS g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 classified as class 3, 4 or 5 in 13/12850 targeted tests and 6/25800 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 - 19 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 19 UK Variant Sharing Initiative
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - Benani Mechita 2020, submitted - - Germline - - - - - DNA SEQ-NG-IT - - BROVCA1 ID3 Benani Mechita 2020, submitted - F - Morocco - 28y - - - 1 Mohcine Bennani
+/. 11 c.798_799del r.(?) p.(Ser267Lysfs*19) - Parent #1 - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Santonocito 2020 - - Germline - 3/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 3 Johan den Dunnen
+/. - c.798_799del r.(?) p.(Ser267Lysfs*19) - Unknown - pathogenic (dominant) g.41246750_41246751del g.43094733_43094734del - - BRCA1_001276 - PubMed: Santonocito 2020 - - Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA Pat3 PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
+/. 11 c.798_799del r.(?) p.(Ser267LysfsTer19) - Unknown IARC pathogenic g.41246750_41246751del g.43094733_43094734del 798_799delTT - BRCA1_001276 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
+/. - c.798_799del r.(?) p.(Ser267LysfsTer19) - Unknown - pathogenic g.41246750_41246751del - BRCA1(NM_007294.3):c.798_799del (p.(Ser267LysfsTer19)), BRCA1(NM_007294.4):c.798_799delTT (p.S267Kfs*19) - BRCA1_001276 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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