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.

23 entries on 1 page. Showing entries 1 - 23.
Legend   How to query  

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     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/- 10 c.978C>A r.(=) p.(Ser326Arg) - Unknown - VUS g.32906593C>A g.32332456C>A - - BRCA2_000049 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897706 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 10 c.978C>A r.(?) p.(Ser326Arg) - Parent #1 - benign g.32906593C>A g.32332456C>A - - BRCA2_000049 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 10 c.978C>A r.(?) p.(Ser326Arg) - Parent #1 - benign g.32906593C>A g.32332456C>A - - BRCA2_000049 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 10 c.978C>A r.(?) p.(Ser326Arg) - Parent #1 - benign g.32906593C>A g.32332456C>A - - BRCA2_000049 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
?/. 10 c.978C>A r.(?) p.Ser326Arg - Unknown - NA g.32906593C>A g.32332456C>A S326R - BRCA2_000049 - PubMed: Edwards 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.978C>A r.(?) p.Ser326Arg - Unknown - NA g.32906593C>A g.32332456C>A S326R - BRCA2_000049 Histopathology; predicted neutral PubMed: Spearman 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.978C>A r.(?) p.(Ser326Arg) - Unknown - benign g.32906593C>A g.32332456C>A - - BRCA2_000049 - shared by Quest Diagnostics - rs28897706 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/. - c.978C>A r.(?) p.(Ser326Arg) - Parent #1 - benign g.32906593C>A g.32332456C>A - - BRCA2_000049 BIC, LOVD; HGMD: pathogenic - - rs28897706 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/- 10 c.978C>A r.(?) p.(Ser326Arg) - Unknown kConFab likely benign g.32906593C>A g.32332456C>A BRCA2 1097 C>A (S326R) - BRCA2_000049 - kConFab variant classification: LCS - - Germline - 2/1658 - - - DNA SEQ - - cancer, breast - - 2 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 2 kConFab - Heather Thorne
-/. 10 c.978C>A r.(?) p.(Ser326Arg) - Parent #1 - benign g.32906593C>A g.32332456C>A 1206C>A-Ser326Arg (S326R) - BRCA2_000049 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 3 families (BRCA1/2 screening) - - Greece - - - - - 3 Florentia Fostira
-/- 10 c.978C>A r.(?) p.(Ser326Arg) - Parent #1 - benign g.32906593C>A g.32332456C>A - - BRCA2_000049 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 = 0.000583 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.978C>A r.(?) p.(Lys3326*) - Unknown - benign g.32906593C>A g.32332456C>A - - BRCA2_000049 - - - rs28897706 Germline - 24/1900 cases - - - DNA SEQ - - cancer, breast BR0847 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10 c.978C>A r.(?) p.(Lys3326*) - Unknown - benign g.32906593C>A g.32332456C>A - - BRCA2_000049 - - - rs28897706 Germline - 24/1900 cases - - - DNA SEQ - - cancer, breast BR0545 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 10 c.978C>A r.(?) p.(Ser326Arg) - Unknown - VUS g.32906593C>A g.32332456C>A - - BRCA2_000049 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-/. - c.978C>A r.(?) p.(Ser326Arg) - Unknown - benign g.32906593C>A g.32332456C>A BRCA2(NM_000059.3):c.978C>A (p.S326R, p.(Ser326Arg), p.Ser326Arg), BRCA2(NM_000059.4):c.978C>A (p.S326R) - BRCA2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.978C>A r.(?) p.(Ser326Arg) - Unknown - benign g.32906593C>A g.32332456C>A BRCA2(NM_000059.3):c.978C>A (p.S326R, p.(Ser326Arg), p.Ser326Arg), BRCA2(NM_000059.4):c.978C>A (p.S326R) - BRCA2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.978C>A r.(?) p.(Ser326Arg) - Unknown - benign g.32906593C>A g.32332456C>A BRCA2(NM_000059.3):c.978C>A (p.S326R, p.(Ser326Arg), p.Ser326Arg), BRCA2(NM_000059.4):c.978C>A (p.S326R) - BRCA2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.978C>A r.(?) p.(Ser326Arg) - Unknown - benign g.32906593C>A g.32332456C>A BRCA2(NM_000059.3):c.978C>A (p.S326R, p.(Ser326Arg), p.Ser326Arg), BRCA2(NM_000059.4):c.978C>A (p.S326R) - BRCA2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.978C>A r.(?) p.(Ser326Arg) - Unknown - benign g.32906593C>A g.32332456C>A BRCA2(NM_000059.3):c.978C>A (p.S326R, p.(Ser326Arg), p.Ser326Arg), BRCA2(NM_000059.4):c.978C>A (p.S326R) - BRCA2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 10 c.978C>A r.(?) p.(Ser326Arg) - Unknown - likely benign g.32906593C>A g.32332456C>A - - BRCA2_000049 - PubMed: Dodova 2015 - - Germline - - - - - DNA SEQ - - BROVCA - PubMed: Dodova 2015 cases F - Bulgaria - - - - - 1 Johan den Dunnen
?/. - c.978C>A r.(?) p.(Ser326Arg) - Parent #1 - VUS g.32906593C>A g.32332456C>A - - BRCA2_000049 classified as class 1, 2, 3, 4 or 5 in 12/25800 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 - 12 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 12 UK Variant Sharing Initiative
-/. - c.978C>A r.(?) p.(Ser326Arg) - Unknown - benign g.32906593C>A - BRCA2(NM_000059.3):c.978C>A (p.S326R, p.(Ser326Arg), p.Ser326Arg), BRCA2(NM_000059.4):c.978C>A (p.S326R) - BRCA2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.978C>A r.(?) p.(Ser326Arg) - Unknown - benign g.32906593C>A - BRCA2(NM_000059.3):c.978C>A (p.S326R, p.(Ser326Arg), p.Ser326Arg), BRCA2(NM_000059.4):c.978C>A (p.S326R) - BRCA2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.