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.

52 entries on 1 page. Showing entries 1 - 52.
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Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

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-/- 11 c.2521C>T r.(=) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1800709 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 11 c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 11 c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 evolutionary conservation analysis; inconclusive PubMed: Burk-Herrick 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 Multifactorial likelihood-ratio model; predicted neutral PubMed: Chenevix-Trench 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 evolutionary conservation analysis; inconclusive PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 evolutionary conservation analysis; predicted deleterious PubMed: Fleming 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 Prevalence in normal controls; predicted neutral PubMed: Goldgar 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 Multifactorial likelihood-ratio model; predicted neutral PubMed: Goldgar 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 evolutionary conservation analysis; predicted deleterious PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 Grantham score; predicted deleterious PubMed: Lee 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 Multifactorial likelihood-ratio model; predicted neutral PubMed: Osorio 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 - PubMed: Pal 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 Bayesian statistics; predicted deleterious PubMed: Petersen 1998 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 Multifactorial likelihood-ratio model; predicted neutral PubMed: Tavtigian 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.Arg841Trp - Unknown - NA g.41245027G>A g.43093010G>A R841W - BRCA1_000207 Multifactorial likelihood-ratio model; predicted neutral PubMed: Thompson 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - shared by Quest Diagnostics - rs1800709 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown kConFab likely benign g.41245027G>A g.43093010G>A 2640 C>T (R841W) - BRCA1_000207 - kConFab variant classification: LCS - - Germline - 10/1658 - - - DNA SEQ - - cancer, breast - - 10 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 10 kConFab - Heather Thorne
-/- 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - rs1800709 Germline - - - - - DNA SEQ-NG - - cancer, breast - - - F - Malaysia Asian Indian - - Yes - 1 Soo Hwang Teo
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - benign g.41245027G>A g.43093010G>A 2640C>T (R841W) - BRCA1_000207 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 4 families (BRCA1/2 screening) - - Greece - - - - - 4 Florentia Fostira
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown ENIGMA benign g.41245027G>A g.43093010G>A R841W - BRCA1_000207 - - - rs1800709 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 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 = 0.00000000000229 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - rs1800709 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1490 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - rs1800709 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2054 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - rs1800709 Germline - 5/1900 cases - - - DNA SEQ - - cancer, breast BR2126 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - rs1800709 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0492 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - rs1800709 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1419 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - rs1800709 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0333 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A BRCA1(NM_007294.3):c.2521C>T (p.R841W, p.(Arg841Trp)), BRCA1(NM_007294.4):c.2521C>T (p.R841W), BRCA1(NM_007300.4):c.2521C>T (p.R841W) - BRCA1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A BRCA1(NM_007294.3):c.2521C>T (p.R841W, p.(Arg841Trp)), BRCA1(NM_007294.4):c.2521C>T (p.R841W), BRCA1(NM_007300.4):c.2521C>T (p.R841W) - BRCA1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A BRCA1(NM_007294.3):c.2521C>T (p.R841W, p.(Arg841Trp)), BRCA1(NM_007294.4):c.2521C>T (p.R841W), BRCA1(NM_007300.4):c.2521C>T (p.R841W) - BRCA1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A BRCA1(NM_007294.3):c.2521C>T (p.R841W, p.(Arg841Trp)), BRCA1(NM_007294.4):c.2521C>T (p.R841W), BRCA1(NM_007300.4):c.2521C>T (p.R841W) - BRCA1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A BRCA1(NM_007294.3):c.2521C>T (p.R841W, p.(Arg841Trp)), BRCA1(NM_007294.4):c.2521C>T (p.R841W), BRCA1(NM_007300.4):c.2521C>T (p.R841W) - BRCA1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - rs1800709 Germline - 8/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - - - rs1800709 Germline - 8/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.2521C>T r.(?) p.(Arg841Trp) - Unknown - VUS g.41245027G>A g.43093010G>A - - BRCA1_000207 - PubMed: Dobricic 2013 - - Germline - - - - - DNA SEQ - - BROVCA 23635950-cas PubMed: Dobricic 2013 cases F - Serbia - - - - - 1 Johan den Dunnen
?/. - c.2521C>T r.(?) p.(Arg841Trp) - Unknown - VUS g.41245027G>A g.43093010G>A 2529C>T - BRCA1_000207 - PubMed: Mahfoudh 2012 - - Germline - - - - - DNA SEQ - - BROVCA 21603858-cas PubMed: Mahfoudh 2012 cases F - Tunisia - - - - - 1 Johan den Dunnen
?/. - c.2521C>T r.(?) p.(Arg841Trp) - Unknown - VUS g.41245027G>A g.43093010G>A 2529C>T - BRCA1_000207 - PubMed: Troudi 2007 - - Germline - 1/36 cases - - - DNA SEQ - - BROVCA 17922257-cas PubMed: Troudi 2007 cases F - Tunisia - - - - - 1 Johan den Dunnen
+/. - c.2521C>T r.(?) p.(Arg841Trp) - Unknown - pathogenic (dominant) g.41245027G>A g.43093010G>A 2640C>T - BRCA1_000207 - PubMed: El-Harith 2002, Journal: Laitman 2019 - - Germline - 1/29 cases - - - DNA SEQ - - BROVCA 12070551-cas PubMed: El-Harith 2002, Journal: Laitman 2019 cases F - Saudi Arabia Egypt - - - - 1 Eitan Friedman
-/. - c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - benign g.41245027G>A g.43093010G>A 2521C>T - BRCA1_000207 - PubMed: Bhaskaran 2019 - (refs 80) - rs1800709 Germline - 1 - - - DNA DHPLC - - cancer, breast BRCA1-var229 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 1 Johan den Dunnen
-/. - c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A BRCA1(NM_007294.3):c.2521C>T (p.R841W, p.(Arg841Trp)), BRCA1(NM_007294.4):c.2521C>T (p.R841W), BRCA1(NM_007300.4):c.2521C>T (p.R841W) - BRCA1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - likely benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - PubMed: Dean 2015 - rs1800709 Germline - - - - - DNA SEQ-NG-IT Saliva - cancer, breast - PubMed: Dean 2015 - F - United States Hispanic - - - - 1 Johan den Dunnen
-?/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - likely benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - Journal: Gao 2020 as reported in: Wenfeng Li 2007 - - Germline - 1 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: Wenfeng Li 2007 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. - c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - VUS g.41245027G>A g.43093010G>A - - BRCA1_000207 classified as class 1, 2, 3, 4 or 5 in 1/12850 targeted tests and 24/25800 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 - 25 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 25 UK Variant Sharing Initiative
-/. - c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1800709 Germline - 17/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 17 Mohammed Faruq
-/. - c.2521C>T r.(?) p.(Arg841Trp) - Parent #1 - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - PubMed: Dong 2021 - rs1800709 Germline - 4/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 4F F - China - - - - - 4 Johan den Dunnen
-/. - c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A - BRCA1(NM_007294.3):c.2521C>T (p.R841W, p.(Arg841Trp)), BRCA1(NM_007294.4):c.2521C>T (p.R841W), BRCA1(NM_007300.4):c.2521C>T (p.R841W) - BRCA1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.2521C>T r.(?) p.(Arg841Trp) - Unknown - benign g.41245027G>A g.43093010G>A - - BRCA1_000207 - Nodo Argentina Varioma, unpublished - rs1800709 Germline - - - - - DNA SEQ - - BROVCA BR3036 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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