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.

54 entries on 1 page. Showing entries 1 - 54.
Legend   How to query  

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     
-/- 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
-/- 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C 4158A>G - BRCA1_000285 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
-/- 11 c.4039A>G r.(=) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897689 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 11 c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 11 c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 11 c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 co-occurrence with deleterious variant; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 Prevalence in normal controls; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 Multifactorial likelihood-ratio model; predicted neutral PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 - PubMed: Langston 1996 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 evolutionary conservation analysis; predicted neutral PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 Grantham score; predicted deleterious PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 Multifactorial likelihood-ratio model; predicted neutral PubMed: Osorio 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 - PubMed: Salazar 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 - PubMed: Spitzer 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 Multifactorial likelihood-ratio model; predicted neutral PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.4039A>G r.(?) p.Arg1347Gly - Unknown - NA g.41243509T>C g.43091492T>C R1347G (4158A/G) - BRCA1_000285 Grantham score; predicted deleterious PubMed: Tommasi 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - shared by Quest Diagnostics - rs28897689 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown kConFab likely benign g.41243509T>C g.43091492T>C 4158 A>G (R1347G) - BRCA1_000285 - kConFab variant classification: LCS - - Germline - 13/1658 - - - DNA SEQ - - cancer, breast - - 13 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 13 kConFab - Heather Thorne
-?/- 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - likely benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - relative of Pat4b - - Argentina European - - - - 2 Roxana Cerretini
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - benign g.41243509T>C g.43091492T>C 4158A>G-Arg1347Gly (R1347G) - BRCA1_000285 - - - rs28897689 Germline - - - - - DNA SEQ - - cancer, breast - - 7 families (BRCA1/2 screening) - - Greece - - - - - 7 Florentia Fostira
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown ENIGMA benign g.41243509T>C g.43091492T>C R1347G - BRCA1_000285 - - - rs28897689 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown ENIGMA benign g.41243509T>C g.43091492T>C R1347G - BRCA1_000285 - - - rs28897689 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown ENIGMA benign g.41243509T>C g.43091492T>C R1347G - BRCA1_000285 - - - rs28897689 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown ENIGMA benign g.41243509T>C g.43091492T>C R1347G - BRCA1_000285 - - - rs28897689 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown ENIGMA benign g.41243509T>C g.43091492T>C R1347G - BRCA1_000285 - - - rs28897689 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown ENIGMA benign g.41243509T>C g.43091492T>C R1347G - BRCA1_000285 - - - rs28897689 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.00000000000204 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - rs28897689 Germline - 9/1900 cases - - - DNA SEQ - - cancer, breast BR0370 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - rs28897689 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0435 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - rs28897689 Germline - 9/1900 cases - - - DNA SEQ - - cancer, breast BR0806 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - rs28897689 Germline - 9/1900 cases - - - DNA SEQ - - cancer, breast BR2059 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - rs28897689 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0429 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C BRCA1(NM_007294.2):c.4039A>G, BRCA1(NM_007294.3):c.4039A>G (p.R1347G, p.(Arg1347Gly)), BRCA1(NM_007294.4):c.4039A>G (p.R1347G), BRCA1(NM_007300.4):... - BRCA1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C BRCA1(NM_007294.2):c.4039A>G, BRCA1(NM_007294.3):c.4039A>G (p.R1347G, p.(Arg1347Gly)), BRCA1(NM_007294.4):c.4039A>G (p.R1347G), BRCA1(NM_007300.4):... - BRCA1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C BRCA1(NM_007294.2):c.4039A>G, BRCA1(NM_007294.3):c.4039A>G (p.R1347G, p.(Arg1347Gly)), BRCA1(NM_007294.4):c.4039A>G (p.R1347G), BRCA1(NM_007300.4):... - BRCA1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C BRCA1(NM_007294.2):c.4039A>G, BRCA1(NM_007294.3):c.4039A>G (p.R1347G, p.(Arg1347Gly)), BRCA1(NM_007294.4):c.4039A>G (p.R1347G), BRCA1(NM_007300.4):... - BRCA1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C BRCA1(NM_007294.2):c.4039A>G, BRCA1(NM_007294.3):c.4039A>G (p.R1347G, p.(Arg1347Gly)), BRCA1(NM_007294.4):c.4039A>G (p.R1347G), BRCA1(NM_007300.4):... - BRCA1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - rs28897689 Germline - 10/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - VUS g.41243509T>C g.43091492T>C - - BRCA1_000285 - PubMed: Stegel 2011 - - Germline - 2/208 cases - - - DNA SEQ - - BROVCA 21232165-cas PubMed: Stegel 2011 cases F - Slovenia - - - - - 2 Johan den Dunnen
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - rs28897689 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina Italy - - - - 1 Maximiliano Zeballos
-?/. - c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - likely benign g.41243509T>C g.43091492T>C BRCA1(NM_007294.2):c.4039A>G, BRCA1(NM_007294.3):c.4039A>G (p.R1347G, p.(Arg1347Gly)), BRCA1(NM_007294.4):c.4039A>G (p.R1347G), BRCA1(NM_007300.4):... - BRCA1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - VUS g.41243509T>C g.43091492T>C - - BRCA1_000285 classified as class 1, 2, 3, 4 or 5 in 3/12850 targeted tests and 39/25800 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 - 42 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 42 UK Variant Sharing Initiative
-/. - c.4039A>G r.(?) p.(Arg1347Gly) - Parent #1 - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28897689 Germline - 3/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 3 Mohammed Faruq
-/. - c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C - BRCA1(NM_007294.2):c.4039A>G, BRCA1(NM_007294.3):c.4039A>G (p.R1347G, p.(Arg1347Gly)), BRCA1(NM_007294.4):c.4039A>G (p.R1347G), BRCA1(NM_007300.4):... - BRCA1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - Nodo Argentina Varioma, unpublished - rs28897689 Germline - - - - - DNA SEQ - - BROVCA BR2954 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4039A>G r.(?) p.(Arg1347Gly) - Unknown - benign g.41243509T>C g.43091492T>C - - BRCA1_000285 - Nodo Argentina Varioma, unpublished - rs28897689 Germline - - - - - DNA SEQ - - BROVCA BR3180 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.