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.

61 entries on 1 page. Showing entries 1 - 61.
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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     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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Gender     

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Owner     
+/+ 11 c.3331_3334del r.(?) p.(Gln1111fs) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3331_3334del r.(?) p.(Gln1111fs) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3331_3334del r.(?) p.(Gln1111fs) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3331_3334del r.(?) p.(Gln1111fs) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3331_3334del r.(?) p.(Gln1111fs) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3331_3334del r.(?) p.(Gln1111fs) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3331_3334del r.(?) p.(Gln1111fs) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.3331_3334del r.(?) p.(Gln1111fs) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3331_3334del r.(?) p.(Gln1111fs) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Unknown kConFab pathogenic g.41244217_41244220del g.43092200_43092203del 3450_3453 del CAAG (STOP 1115) - BRCA1_001471 - kConFab variant classification: P - - Germline - 6/1658 - - - DNA SEQ - - cancer, breast - - 6 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 6 kConFab - Heather Thorne
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Unknown kConFab pathogenic g.41244217_41244220del g.43092200_43092203del 3447_3450 del 4 (STOP 1115) - BRCA1_001471 - kConFab variant classification: P - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic (dominant) g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - - - rs80357701 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0787 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del 3450delCAAG (1115X) - BRCA1_001471 - PubMed: Torres 2007 - - Germline - 5/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam15 PubMed: Torres 2007 family, 4 affecteds - - Colombia Hispanic - - - - 4 Johan den Dunnen
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del 3450delCAAG (1115X) - BRCA1_001471 - PubMed: Torres 2007 - - Germline - 5/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam17 PubMed: Torres 2007 family, 3 affecteds - - Colombia Hispanic - - - - 3 Johan den Dunnen
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del 3450delCAAG (1115X) - BRCA1_001471 - PubMed: Torres 2007 - - Germline - 5/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam25 PubMed: Torres 2007 family, 2 affecteds - - Colombia Hispanic - - - - 2 Johan den Dunnen
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del 3450delCAAG (1115X) - BRCA1_001471 - PubMed: Torres 2007 - - Germline - 5/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam30 PubMed: Torres 2007 family, 1 affected - - Colombia Hispanic - - - - 1 Johan den Dunnen
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del 3450delCAAG (1115X) - BRCA1_001471 - PubMed: Torres 2007 - - Germline - 5/53 cases - - - DNA DHPLC, SEQ, SSCA blood - BROVCA 17080309-Fam47 PubMed: Torres 2007 family, 4 affecteds - - Colombia Hispanic - - - - 4 Johan den Dunnen
+/+ 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del 3450delCAAG - BRCA1_001471 - PubMed: Briceno-Balcazar 2017 - - Germline - - - - - DNA PCR, SEQ blood - cancer, breast 29021639-Pat? PubMed: Briceno-Balcazar 2017 analysis 853 breast cancer cases - - Colombia - - - - - 13 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del 3331_3334del4 - BRCA1_001471 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 11 c.3331_3334del r.(?) p.(Gln1111AsnfsTer5) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del BRCA1(NM_007294.3):c.3331_3334delCAAG (p.Q1111Nfs*5), BRCA1(NM_007294.4):c.3331_3334delCAAG (p.Q1111Nfs*5) - BRCA1_001471 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3331_3334del r.(?) p.(Gln1111AsnfsTer5) - Unknown - pathogenic g.41244217_41244220del g.43092200_43092203del BRCA1(NM_007294.3):c.3331_3334delCAAG (p.Q1111Nfs*5), BRCA1(NM_007294.4):c.3331_3334delCAAG (p.Q1111Nfs*5) - BRCA1_001471 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil Asian - - - - 1 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Brazil unknown - - - - 3 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 18 families F - Brazil white - - - - 18 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Canada Asian - - - - 1 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - 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.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 36 families F - Colombia Hispanic - - - - 36 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Denmark white - - - - 2 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - 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.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - France white - - - - 7 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - 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.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 8 families F - Germany unknown - - - - 8 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Italy white - - - - 1 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 15 families F - Portugal white - - - - 15 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Spain Hispanic - - - - 1 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 22 families F - Spain white - - - - 22 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Sweden unknown - - - - 1 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - 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.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 34 families F - United Kingdom (Great Britain) white - - - - 34 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States unknown - - - - 1 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - United States Hispanic - - - - 4 Johan den Dunnen
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 15 families F - United States white - - - - 15 Johan den Dunnen
+/. - c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Unknown - pathogenic (dominant) g.41244217_41244220del g.43092200_43092203del 3450_3453delCAAG - BRCA1_001471 - PubMed: Al-Mulla 2009 - - Germline - - - - - DNA SEQ - - BROVCA 19329713-cas PubMed: Al-Mulla 2009 cases F - Kuwait - - - - - 1 Johan den Dunnen
+/. - c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Unknown - pathogenic (dominant) g.41244217_41244220del g.43092200_43092203del 3450del4 - BRCA1_001471 - PubMed: Abdel-Razeq 2018, Journal: Laitman 2019 - rs80357903 Germline - - - - - DNA SEQ - - BROVCA 29409476-cas PubMed: Abdel-Razeq 2018, Journal: Laitman 2019 family F - Jordan - - - - - 4 Eitan Friedman
+/. - c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Unknown - pathogenic (dominant) g.41244217_41244220del g.43092200_43092203del 3450del4 - BRCA1_001471 - Journal: Laitman 2019 - rs80357903 Germline - - - - - DNA SEQ - - BROVCA ? Journal: Laitman 2019 case F - Lebanon - - - - - 1 Eitan Friedman
+/. - c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Unknown - pathogenic (dominant) g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - PubMed: Mahfoudh 2012, Journal: Laitman 2019 - rs80357903 Germline - 1/16 case families - - - DNA SEQ - - BROVCA 21603858-cas PubMed: Mahfoudh 2012, Journal: Laitman 2019 family F - Tunisia - - - - - 1 Eitan Friedman
+/. - c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Unknown - pathogenic (dominant) g.41244217_41244220del g.43092200_43092203del 3447del4 - BRCA1_001471 - PubMed: Papp 1999, Journal: Laitman 2019 - rs80357777 Germline - 1/12 case families - - - DNA SSCA - - BROVCA 10523726-cas PubMed: Papp 1999, Journal: Laitman 2019 family F - Yugoslavia - - - - - 1 Eitan Friedman
+/. - c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic (dominant) g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - - - - 2 Johan den Dunnen
?/. - c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - VUS g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 classified as class 3, 4 or 5 in 50/12850 targeted tests and 26/25800 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 - 76 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 76 UK Variant Sharing Initiative
+/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - pathogenic (dominant) g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Santonocito 2020 - rs80357701 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
+/. - c.3331_3334del r.(?) p.(Gln1111AsnfsTer5) - Unknown - pathogenic g.41244217_41244220del - BRCA1(NM_007294.3):c.3331_3334delCAAG (p.Q1111Nfs*5), BRCA1(NM_007294.4):c.3331_3334delCAAG (p.Q1111Nfs*5) - BRCA1_001471 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Parent #1 - NA g.41244217_41244220del - chr17_41244213_TCTTG_T - BRCA1_001471 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 - 19/60466 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 - 19 BRIDGES consortium
+/. - c.3331_3334del r.(?) p.(Gln1111AsnfsTer5) - Parent #1 ACMG pathogenic (dominant) g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat56 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.3331_3334del r.(?) p.(Gln1111AsnfsTer5) - Unknown - pathogenic g.41244217_41244220del - BRCA1(NM_007294.3):c.3331_3334delCAAG (p.Q1111Nfs*5), BRCA1(NM_007294.4):c.3331_3334delCAAG (p.Q1111Nfs*5) - BRCA1_001471 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.3331_3334del r.(?) p.(Gln1111Asnfs*5) - Unknown - likely pathogenic (dominant) g.41244217_41244220del g.43092200_43092203del 3331_3334delCAAG - BRCA1_001471 - PubMed: Van Der Merwe 2022 - rs80357701 Germline - - - - - DNA SEQ - - BROVCA family PubMed: Van Der Merwe 2022 1 family F - South Africa - - - - - 1 Johan den Dunnen
+/. 10 c.3331_3334del r.(3331_3334del) p.(Gln1111AsnfsTer5) - Unknown ACMG pathogenic g.41244217_41244220del g.43092200_43092203del - - BRCA1_001471 - - - - Germline - - - - - DNA SEQ-NG - - cancer, prostate - - - M - - - - - - - 1 Albain Chansavang
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