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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Exon     

AscendingDNA change (cDNA)     

RNA change     

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-/- 18 c.5117G>C r.(=) p.(Gly1706Ala) - Unknown - benign g.41215926C>G g.43063909C>G - - BRCA1_000391 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs80356860 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/. 18 c.5117G>C r.(?) p.(Gly1706Ala) - Parent #1 - benign g.41215926C>G g.43063909C>G - - BRCA1_000391 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
?/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 transcription activation/PS/BA/BS; no functional effect PubMed: Lee 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 evolutionary conservation analysis; predicted deleterious PubMed: Abkevich 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.= p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 cDNA analysis; predicted neutral PubMed: Campos 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 evolutionary conservation analysis; predicted deleterious PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.= p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 mRNA analysis (RT-PCR); as wildtype control PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 Proteolytic degradation; as wildtype control PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 Transcription activation in human cells; as wildtype control PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 Structure-based prediction (crystallography etc); predicted deleterious PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 Grantham score; predicted neutral PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 Loss of Heterozygosity; loss of wildtype allele PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 Centrosome amplification; as wildtype control PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 Nuclear localisation; as wildtype control PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 Histopathology; predicted neutral PubMed: Lovelock 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 Transcription activation in yeast (GAL4-fusions); as wildtype control PubMed: Phelan 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 18 c.5117G>C r.(?) p.Gly1706Ala - Unknown - NA g.41215926C>G g.43063909C>G G1706A - BRCA1_000391 Thermodynamic stability prediction; mildly destabilizing PubMed: Rowling 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 18 c.5117G>C r.(?) p.(Gly1706Ala) - Unknown kConFab likely benign g.41215926C>G g.43063909C>G 5236 G>C (G1706A) - BRCA1_000391 - kConFab variant classification: LCS - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
-/- 18 c.5117G>C r.(?) p.(Gly1706Ala) - Parent #1 - benign g.41215926C>G g.43063909C>G - - BRCA1_000391 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
-/- 18 c.5117G>C r.(?) p.(Gly1706Ala) - Parent #1 - benign g.41215926C>G g.43063909C>G - - BRCA1_000391 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 = 0.0000495 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - benign g.41215926C>G g.43063909C>G - - BRCA1_000391 - - - rs80356860 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2054 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18 c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - benign g.41215926C>G g.43063909C>G - - BRCA1_000391 - - - rs80356860 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1419 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 18 c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - VUS g.41215926C>G g.43063909C>G - - BRCA1_000391 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-/. 18 c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - benign g.41215926C>G g.43063909C>G BRCA1(NM_007294.3):c.5117G>C (p.G1706A, p.(Gly1706Ala)), BRCA1(NM_007294.4):c.5117G>C (p.G1706A), BRCA1(NM_007300.4):c.5180G>C (p.G1727A) - BRCA1_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - benign g.41215926C>G g.43063909C>G BRCA1(NM_007294.3):c.5117G>C (p.G1706A, p.(Gly1706Ala)), BRCA1(NM_007294.4):c.5117G>C (p.G1706A), BRCA1(NM_007300.4):c.5180G>C (p.G1727A) - BRCA1_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - benign g.41215926C>G g.43063909C>G BRCA1(NM_007294.3):c.5117G>C (p.G1706A, p.(Gly1706Ala)), BRCA1(NM_007294.4):c.5117G>C (p.G1706A), BRCA1(NM_007300.4):c.5180G>C (p.G1727A) - BRCA1_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 18 c.5117G>C r.(?) p.(Gly1706Ala) - Parent #1 - benign g.41215926C>G g.43063909C>G - - BRCA1_000391 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 18 c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - benign g.41215926C>G g.43063909C>G - - BRCA1_000391 - - - rs80356860 Germline - 2/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. - c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - likely benign g.41215926C>G g.43063909C>G - - BRCA1_000391 - PubMed: Henouda 2016 - - Germline - - - - - DNA SEQ - - BROVCA 26997744-cas PubMed: Henouda 2016 family F - Algeria - - - - - 1 Johan den Dunnen
-?/. - c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - likely benign g.41215926C>G g.43063909C>G - - BRCA1_000391 - PubMed: Henouda 2016 - - Germline - - - - - DNA SEQ - - BROVCA 26997744-cas PubMed: Henouda 2016 family F - Algeria - - - - - 1 Johan den Dunnen
?/. - c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - VUS g.41215926C>G g.43063909C>G - - BRCA1_000391 - PubMed: Laraqui 2013 - - Germline - - - - - DNA SEQ - - BROVCA 23289006-cas PubMed: Laraqui 2013 cases F - Morocco - - - - - 1 Johan den Dunnen
?/. - c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - VUS g.41215926C>G g.43063909C>G - - BRCA1_000391 - PubMed: Mahfoudh 2012 - - Germline - - - - - DNA SEQ - - BROVCA 21603858-cas PubMed: Mahfoudh 2012 cases F - Tunisia - - - - - 1 Johan den Dunnen
?/. - c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - VUS g.41215926C>G g.43063909C>G - - BRCA1_000391 - PubMed: Troudi 2007 - - Germline - 1/36 cases - - - DNA SEQ - - BROVCA 17922257-cas PubMed: Troudi 2007 cases F - Tunisia - - - - - 1 Johan den Dunnen
-/. - c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - benign g.41215926C>G g.43063909C>G BRCA1(NM_007294.3):c.5117G>C (p.G1706A, p.(Gly1706Ala)), BRCA1(NM_007294.4):c.5117G>C (p.G1706A), BRCA1(NM_007300.4):c.5180G>C (p.G1727A) - BRCA1_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5117G>C r.(?) p.(Gly1706Ala) - Parent #1 - VUS g.41215926C>G g.43063909C>G - - BRCA1_000391 classified as class 3, 4 or 5 in 3/25800 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 - 3 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 3 UK Variant Sharing Initiative
?/. - c.5117G>C r.(?) p.(Gly1706Ala) - Parent #1 - NA g.41215926C>G - chr17_41215926_C_G - BRCA1_000391 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 - 2/60466 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 - 2 BRIDGES consortium
?/. - c.5117G>C r.(?) p.(Gly1706Ala) - Parent #1 - NA g.41215926C>G - chr17_41215926_C_G - BRCA1_000391 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 - 4/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 4 BRIDGES consortium
-/. - c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - benign g.41215926C>G - BRCA1(NM_007294.3):c.5117G>C (p.G1706A, p.(Gly1706Ala)), BRCA1(NM_007294.4):c.5117G>C (p.G1706A), BRCA1(NM_007300.4):c.5180G>C (p.G1727A) - BRCA1_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5117G>C r.(?) p.(Gly1706Ala) - Unknown - VUS g.41215926C>G - BRCA1(NM_007294.3):c.5117G>C (p.G1706A, p.(Gly1706Ala)), BRCA1(NM_007294.4):c.5117G>C (p.G1706A), BRCA1(NM_007300.4):c.5180G>C (p.G1727A) - BRCA1_000391 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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