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.

30 entries on 1 page. Showing entries 1 - 30.
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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     

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Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

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Owner     
-/- 15 c.7544C>T r.(=) p.(Thr2515Ile) - Unknown - benign g.32930673C>T g.32356536C>T - - BRCA2_000207 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897744 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 15 c.7544C>T r.(?) p.(Thr2515Ile) - Parent #1 - benign g.32930673C>T g.32356536C>T - - BRCA2_000207 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/. 15 c.7544C>T r.= p.Thr2515Ile - Unknown - NA g.32930673C>T g.32356536C>T T2515I - BRCA2_000207 cDNA analysis; predicted neutral PubMed: Campos 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.7544C>T r.(?) p.Thr2515Ile - Unknown - NA g.32930673C>T g.32356536C>T T2515I - BRCA2_000207 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.7544C>T r.(?) p.Thr2515Ile - Unknown - NA g.32930673C>T g.32356536C>T T2515I - BRCA2_000207 Protein likelihood ratio model; predicted neutral PubMed: Karchin 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.7544C>T r.(?) p.Thr2515Ile - Unknown - NA g.32930673C>T g.32356536C>T T2515I - BRCA2_000207 Multifactorial likelihood-ratio model; predicted neutral PubMed: Spurdle 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.7544C>T r.(?) p.Thr2515Ile - Unknown - NA g.32930673C>T g.32356536C>T T2515I - BRCA2_000207 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.7544C>T r.(?) p.Thr2515Ile - Unknown - NA g.32930673C>T g.32356536C>T T2515I - BRCA2_000207 Centrosome amplification; inconclusive PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.7544C>T r.(?) p.Thr2515Ile - Unknown - NA g.32930673C>T g.32356536C>T T2515I - BRCA2_000207 Nuclear localisation; inconclusive PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 15 c.7544C>T r.(?) p.Thr2515Ile - Unknown - NA g.32930673C>T g.32356536C>T T2515I - BRCA2_000207 Homology-directed repair assay; inconclusive PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 15 c.7544C>T r.(?) p.Thr2515Ile - Unknown - NA g.32930673C>T g.32356536C>T T2515I - BRCA2_000207 Survival assay with VC8 (after MMC treatment); predicted deleterious PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.7544C>T r.(?) p.Thr2515Ile - Unknown - NA g.32930673C>T g.32356536C>T T2515I - BRCA2_000207 Co-segregation in families; predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 15 c.7544C>T r.(?) p.(Thr2515Ile) - Unknown - benign g.32930673C>T g.32356536C>T - - BRCA2_000207 - shared by Quest Diagnostics - rs28897744 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 15 c.7544C>T r.(?) p.(Thr2515Ile) - Unknown kConFab likely benign g.32930673C>T g.32356536C>T BRCA2 7772 C>T (T2515I) - BRCA2_000207 - kConFab variant classification: LCS - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
-/- 15 c.7544C>T r.(?) p.(Thr2515Ile) - Parent #1 - benign g.32930673C>T g.32356536C>T 7772 C>T-Thr2515Ile (T2515I) - BRCA2_000207 - - - rs28897744 Germline - - - - - DNA SEQ - - cancer, breast - - 8 families (BRCA1/2 screening) - - Greece - - - - - 8 Florentia Fostira
-/- 15 c.7544C>T r.(?) p.(Thr2515Ile) - Parent #1 - benign g.32930673C>T g.32356536C>T - - BRCA2_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 = 0.0000643 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 15 c.7544C>T r.(?) p.(Thr2515Ile) - Unknown - benign g.32930673C>T g.32356536C>T - - BRCA2_000207 - - - rs28897744 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1386 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- - c.7544C>T r.(?) p.(Thr2515Ile) - Unknown - benign g.32930673C>T g.32356536C>T BRCA2(NM_000059.3):c.7544C>T (p.T2515I, p.(Thr2515Ile), p.Thr2515Ile), BRCA2(NM_000059.4):c.7544C>T (p.T2515I) - BRCA2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.7544C>T r.(?) p.(Thr2515Ile) - Unknown - benign g.32930673C>T g.32356536C>T BRCA2(NM_000059.3):c.7544C>T (p.T2515I, p.(Thr2515Ile), p.Thr2515Ile), BRCA2(NM_000059.4):c.7544C>T (p.T2515I) - BRCA2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.7544C>T r.(?) p.(Thr2515Ile) - Unknown - benign g.32930673C>T g.32356536C>T BRCA2(NM_000059.3):c.7544C>T (p.T2515I, p.(Thr2515Ile), p.Thr2515Ile), BRCA2(NM_000059.4):c.7544C>T (p.T2515I) - BRCA2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.7544C>T r.(?) p.(Thr2515Ile) - Unknown - benign g.32930673C>T g.32356536C>T BRCA2(NM_000059.3):c.7544C>T (p.T2515I, p.(Thr2515Ile), p.Thr2515Ile), BRCA2(NM_000059.4):c.7544C>T (p.T2515I) - BRCA2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 15 c.7544C>T r.(?) p.(Thr2515Ile) - Unknown - benign g.32930673C>T g.32356536C>T - - BRCA2_000207 - - - rs28897744 Germline - 2/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.7544C>T r.(?) p.(Thr2515Ile) - Parent #1 - VUS g.32930673C>T g.32356536C>T - - BRCA2_000207 classified as class 1, 2, 3, 4 or 5 in 6/25800 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 - 6 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 6 UK Variant Sharing Initiative
-/. - c.7544C>T r.(?) p.(Thr2515Ile) - Parent #1 - benign g.32930673C>T g.32356536C>T - - BRCA2_000207 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28897744 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
?/. - c.7544C>T r.(?) p.(Thr2515Ile) - Parent #1 - NA g.32930673C>T - chr13_32930673_C_T - BRCA2_000207 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 - 99/60466 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 - 99 BRIDGES consortium
?/. - c.7544C>T r.(?) p.(Thr2515Ile) - Parent #1 - NA g.32930673C>T - chr13_32930673_C_T - BRCA2_000207 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 - 112/53461 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 - 112 BRIDGES consortium
-/. - c.7544C>T r.(?) p.(Thr2515Ile) - Parent #1 - benign g.32930673C>T g.32356536C>T - - BRCA2_000207 - PubMed: Dong 2021 - rs28897744 Germline - 1/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1M M - China - - - - - 1 Johan den Dunnen
-?/. - c.7544C>T r.(?) p.(Thr2515Ile) - Unknown - likely benign g.32930673C>T - BRCA2(NM_000059.3):c.7544C>T (p.T2515I, p.(Thr2515Ile), p.Thr2515Ile), BRCA2(NM_000059.4):c.7544C>T (p.T2515I) - BRCA2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7544C>T r.(?) p.(Thr2515Ile) - Unknown - benign g.32930673C>T - BRCA2(NM_000059.3):c.7544C>T (p.T2515I, p.(Thr2515Ile), p.Thr2515Ile), BRCA2(NM_000059.4):c.7544C>T (p.T2515I) - BRCA2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.7544C>T r.(?) p.(Thr2515Ile) - Unknown - benign g.32930673C>T - BRCA2(NM_000059.3):c.7544C>T (p.T2515I, p.(Thr2515Ile), p.Thr2515Ile), BRCA2(NM_000059.4):c.7544C>T (p.T2515I) - BRCA2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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