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.

81 entries on 1 page. Showing entries 1 - 81.
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AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ClinVar ID     

dbSNP ID     

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-/- 11 c.6100C>T r.(=) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1799954 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 11 c.6100C>T r.(?) p.Arg2034Cys - Unknown - NA g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 LOH analysis; Loss of wild type allele PubMed: Beristain 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.6100C>T r.(?) p.Arg2034Cys - Unknown - NA g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 Co-segregation in families; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.6100C>T r.(?) p.Arg2034Cys - Unknown - NA g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 co-occurrence with deleterious variant; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.6100C>T r.(?) p.Arg2034Cys - Unknown - NA g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.6100C>T r.(?) p.Arg2034Cys - Unknown - NA g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 - PubMed: Johnson 2007 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.6100C>T r.(?) p.Arg2034Cys - Unknown - NA g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 - PubMed: Salazar 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.6100C>T r.(?) p.Arg2034Cys - Unknown - NA g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 Histopathology; inconclusive PubMed: Spearman 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.6100C>T r.(?) p.Arg2034Cys - Unknown - NA g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 11 c.6100C>T r.(?) p.Arg2034Cys - Parent #1 - NA g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 co-ocurrence; neutral PubMed: Caputo 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - shared by Quest Diagnostics - rs32914592 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown kConFab likely benign g.32914592C>T g.32340455C>T BRCA2 6328 C>T (R2034C) - BRCA2_000152 - kConFab variant classification: LCS - - Germline - 14/1658 - - - DNA SEQ - - cancer, breast - - 14 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 14 kConFab - Heather Thorne
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T 6328C>T-Arg2034Cys (R2034C) - BRCA2_000152 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 2 families (BRCA1/2 screening) - - Greece - - - - - 2 Florentia Fostira
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown ENIGMA benign g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 - - - rs1799954 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown ENIGMA benign g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 - - - rs1799954 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown ENIGMA benign g.32914592C>T g.32340455C>T R2034C - BRCA2_000152 - - - rs1799954 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 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 = 0.00000571 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR0667 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR1559 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR0764 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR0517 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0787 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR1458 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR0332 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR0456 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR1028 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR1456 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR2108 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR0827 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR1193 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR0398 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR0797 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR1269 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR1433 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR2076 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 21/1900 cases - - - DNA SEQ - - cancer, breast BR0519 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/- 11 c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - VUS g.32914592C>T g.32340455C>T C6328T - BRCA2_000152 - PubMed: Briceno-Balcazar 2017 - - Germline - - - - - DNA SEQ blood - cancer, breast 29021639-Pat? PubMed: Briceno-Balcazar 2017 analysis 256 breast cancer cases - - Colombia - - - - - 3 Johan den Dunnen
-/- - c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T BRCA2(NM_000059.3):c.6100C>T (p.R2034C, p.(Arg2034Cys)), BRCA2(NM_000059.4):c.6100C>T (p.R2034C) - BRCA2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T BRCA2(NM_000059.3):c.6100C>T (p.R2034C, p.(Arg2034Cys)), BRCA2(NM_000059.4):c.6100C>T (p.R2034C) - BRCA2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T BRCA2(NM_000059.3):c.6100C>T (p.R2034C, p.(Arg2034Cys)), BRCA2(NM_000059.4):c.6100C>T (p.R2034C) - BRCA2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T BRCA2(NM_000059.3):c.6100C>T (p.R2034C, p.(Arg2034Cys)), BRCA2(NM_000059.4):c.6100C>T (p.R2034C) - BRCA2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T BRCA2(NM_000059.3):c.6100C>T (p.R2034C, p.(Arg2034Cys)), BRCA2(NM_000059.4):c.6100C>T (p.R2034C) - BRCA2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - 26/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs1799954 Germline - 1/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 1 Yukihide Momozawa
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - PubMed: Dobricic 2013 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Dobricic 2013 cases F - Serbia - - - - - 1 Johan den Dunnen
-?/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - likely benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - PubMed: Dodova 2015 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Dodova 2015 cases F - Bulgaria - - - - - 1 Johan den Dunnen
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - - - rs1799954 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T BRCA2(NM_000059.3):c.6100C>T (p.R2034C, p.(Arg2034Cys)), BRCA2(NM_000059.4):c.6100C>T (p.R2034C) - BRCA2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1799954 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - PubMed: Dong 2021 - rs1799954 Germline - 1/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1F F - China - - - - - 1 Johan den Dunnen
-/. - c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T - BRCA2(NM_000059.3):c.6100C>T (p.R2034C, p.(Arg2034Cys)), BRCA2(NM_000059.4):c.6100C>T (p.R2034C) - BRCA2_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - Nodo Argentina Varioma, unpublished - rs1799954 Germline - - - - - DNA SEQ - - BROVCA BR3042 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - Nodo Argentina Varioma, unpublished - rs1799954 Germline - - - - - DNA SEQ - - BROVCA BR3120 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.6100C>T r.(?) p.(Arg2034Cys) - Parent #1 - VUS g.32914592C>T g.32340455C>T - - BRCA2_000152 classified as class 1, 2, 3, 4 or 5 in 1/12850 targeted tests and 8/25800 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 - 9 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 9 UK Variant Sharing Initiative
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - Nodo Argentina Varioma, unpublished - rs1799954 Germline - - - - - DNA SEQ - - BROVCA BR3135 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - Nodo Argentina Varioma, unpublished - rs1799954 Germline - - - - - DNA SEQ - - BROVCA BR3196 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - Nodo Argentina Varioma, unpublished - rs1799954 Germline - - - - - DNA SEQ - - BROVCA BR3245 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - Nodo Argentina Varioma, unpublished - rs1799954 Germline - - - - - DNA SEQ - - BROVCA BR3395 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - Nodo Argentina Varioma, unpublished - rs1799954 Germline - - - - - DNA SEQ - - BROVCA BR2973 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - Nodo Argentina Varioma, unpublished - rs1799954 Germline - - - - - DNA SEQ - - BROVCA BR3071 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.6100C>T r.(?) p.(Arg2034Cys) - Unknown - benign g.32914592C>T g.32340455C>T - - BRCA2_000152 - Nodo Argentina Varioma, unpublished - rs1799954 Germline - - - - - DNA SEQ - - BROVCA BR3351 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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