Full data view for gene BRCA2

All records describing functional studies of specific variants.
BRCA2 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_000059.3 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Re-site     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

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?/- 3 c.125A>G r.(=) p.(Tyr42Cys) - Unknown - VUS g.32893271A>G g.32319134A>G - - BRCA2_000016 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs4987046 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 3 c.125A>G r.(?) p.(Tyr42Cys) - Parent #1 - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 3 c.125A>G r.(?) p.(Tyr42Cys) - Parent #1 - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 3 c.125A>G r.(?) p.(Tyr42Cys) - Parent #1 - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 LOH analysis; Loss of wild type allele PubMed: Beristain 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Multifactorial likelihood-ratio model; predicted neutral PubMed: Chenevix-Trench 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 - PubMed: Edwards 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Multifactorial likelihood-ratio model; predicted neutral PubMed: Farrugia 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Prevalence in normal controls; predicted neutral PubMed: Goldgar 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Multifactorial likelihood-ratio model; predicted neutral PubMed: Goldgar 2004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 family history; predicted neutral PubMed: Gomez-Garcia 2009 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Cell viability (in BRCA-/- cells); as wildtype control PubMed: Kuznetsov 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Transcription activation in yeast (GAL4-fusions); as variant control PubMed: Milner 1997 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 - PubMed: Salazar 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Histopathology; predicted neutral PubMed: Spearman 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 - PubMed: Spitzer 2000 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 - PubMed: Turner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 co-immunoprecipitation BRCA2:RPA; predicted deleterious PubMed: Wong 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Nuclear localisation; as wildtype control PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 co-occurrence with deleterious variant; predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Co-segregation in families; predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Survival assay with VC8 (after MMC treatment); predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Homology-directed repair assay; predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 Centrosome amplification; as wildtype control PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.Tyr42Cys - Unknown - NA g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 evolutionary conservation analysis; predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - shared by Quest Diagnostics - rs4987046 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown kConFab likely benign g.32893271A>G g.32319134A>G BRCA2 353 A>G (Y42C) - BRCA2_000016 - kConFab variant classification: LCS - - Germline - 9/1658 - - - DNA SEQ - - cancer, breast - - 9 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 9 kConFab - Heather Thorne
?/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Parent #1 - VUS g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 1 family (BRCA1/2 screening) - - Greece - - - - - 1 Florentia Fostira
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown ENIGMA benign g.32893271A>G g.32319134A>G Y42C - BRCA2_000016 - - - rs4987046 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 3 c.125A>G r.(?) p.(Tyr42Cys) - Parent #1 - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 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 = 1.22E-18. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.04021 (Asian), 0.1016 (African), 0.04749 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - rs4987046 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR0463 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - rs4987046 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR0541 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - rs4987046 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR0741 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - rs4987046 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0963 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - rs4987046 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR0724 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - rs4987046 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR1204 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - rs4987046 Germline - 7/1900 cases - - - DNA SEQ - - cancer, breast BR1050 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G BRCA2(NM_000059.3):c.125A>G (p.Y42C, p.(Tyr42Cys), p.Tyr42Cys), BRCA2(NM_000059.4):c.125A>G (p.Y42C) - BRCA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G BRCA2(NM_000059.3):c.125A>G (p.Y42C, p.(Tyr42Cys), p.Tyr42Cys), BRCA2(NM_000059.4):c.125A>G (p.Y42C) - BRCA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G BRCA2(NM_000059.3):c.125A>G (p.Y42C, p.(Tyr42Cys), p.Tyr42Cys), BRCA2(NM_000059.4):c.125A>G (p.Y42C) - BRCA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G BRCA2(NM_000059.3):c.125A>G (p.Y42C, p.(Tyr42Cys), p.Tyr42Cys), BRCA2(NM_000059.4):c.125A>G (p.Y42C) - BRCA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G BRCA2(NM_000059.3):c.125A>G (p.Y42C, p.(Tyr42Cys), p.Tyr42Cys), BRCA2(NM_000059.4):c.125A>G (p.Y42C) - BRCA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - rs4987046 Germline - 8/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Parent #1 - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs4987046 Germline - 1/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 1 Yukihide Momozawa
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Parent #1 - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs4987046 Germline - 1/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 1 Yukihide Momozawa
-?/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - likely benign g.32893271A>G g.32319134A>G 353A>G - BRCA2_000016 - PubMed: Jalkh 2012 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Jalkh 2012 cases F - Lebanon - - - - - 1 Johan den Dunnen
?/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - VUS g.32893271A>G g.32319134A>G - - BRCA2_000016 - PubMed: Mangouglu 2003 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Mangouglu 2003 cases F - Turkey - - - - - 1 Johan den Dunnen
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - - - rs4987046 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - likely benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - Journal: Gao 2020 as reported in: PubMed: Kwong 2016, Journal: Kwong 2016 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Kwong 2016, Journal: Kwong 2016 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. - c.125A>G r.(?) p.(Tyr42Cys) - Parent #1 - VUS g.32893271A>G g.32319134A>G - - BRCA2_000016 classified as class 1, 2, 3, 4 or 5 in 15/25800 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 - 15 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 15 UK Variant Sharing Initiative
-/. - c.125A>G r.(?) p.(Tyr42Cys) - Parent #1 - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - PubMed: Dong 2021 - rs4987046 Germline - 7/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 5F/2M F;M - China - - - - - 7 Johan den Dunnen
-/. - c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G - BRCA2(NM_000059.3):c.125A>G (p.Y42C, p.(Tyr42Cys), p.Tyr42Cys), BRCA2(NM_000059.4):c.125A>G (p.Y42C) - BRCA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown ACMG benign g.32893271A>G - c.125A>G - BRCA2_000016 classification based on multiple evidence types incl. bioinformatics, RNA analysis, mini-gene splicing assays, clinical data, etc. PubMed: Thomassen 2022 - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G - BRCA2(NM_000059.3):c.125A>G (p.Y42C, p.(Tyr42Cys), p.Tyr42Cys), BRCA2(NM_000059.4):c.125A>G (p.Y42C) - BRCA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - Nodo Argentina Varioma, unpublished - rs4987046 Germline - - - - - DNA SEQ - - BROVCA BR2971 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - Nodo Argentina Varioma, unpublished - rs4987046 Germline - - - - - DNA SEQ - - BROVCA BR3219 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.125A>G r.(?) p.(Tyr42Cys) - Unknown - benign g.32893271A>G g.32319134A>G - - BRCA2_000016 - Nodo Argentina Varioma, unpublished - rs4987046 Germline - - - - - DNA SEQ - - BROVCA BR3395 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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