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.

29 entries on 1 page. Showing entries 1 - 29.
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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     

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     
?/? 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/? 5 c.440A>G r.(?) p.(Gln147Arg) - Parent #1 - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/? 5 c.440A>G r.(?) p.(Gln147Arg) - Parent #1 - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
?/? 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown kConFab VUS g.32900252A>G g.32326115A>G BRCA2 668 A>G (Q147R) - BRCA2_001582 - kConFab variant classification: UV - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
?/. 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G Q147R - BRCA2_001582 - - - rs80358674 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-?/. - c.440A>G r.(?) p.(Gln147Arg) - Unknown - likely benign g.32900252A>G g.32326115A>G BRCA2(NM_000059.3):c.440A>G (p.Q147R, p.(Gln147Arg), p.Gln147Arg), BRCA2(NM_000059.4):c.440A>G (p.Q147R) - BRCA2_001582 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.440A>G r.(?) p.(Gln147Arg) - Parent #1 - benign g.32900252A>G g.32326115A>G - - BRCA2_001582 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs80358674 Germline - 2/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 2 Yukihide Momozawa
-/. - c.440A>G r.(?) p.(Gln147Arg) - Parent #1 - benign g.32900252A>G g.32326115A>G 668A>G, 440A>G - BRCA2_001582 - PubMed: Bhaskaran 2019 - (refs 41, 96) - rs80358674 Germline - 3/186 cases - - - DNA SEQ, MLPA - - cancer, breast BRCA1-var22 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - - - - 3 Johan den Dunnen
-?/. - c.440A>G r.(?) p.(Gln147Arg) - Unknown - likely benign g.32900252A>G g.32326115A>G BRCA2(NM_000059.3):c.440A>G (p.Q147R, p.(Gln147Arg), p.Gln147Arg), BRCA2(NM_000059.4):c.440A>G (p.Q147R) - BRCA2_001582 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.440A>G r.(?) p.(Gln147Arg) - Unknown - likely benign g.32900252A>G g.32326115A>G BRCA2(NM_000059.3):c.440A>G (p.Q147R, p.(Gln147Arg), p.Gln147Arg), BRCA2(NM_000059.4):c.440A>G (p.Q147R) - BRCA2_001582 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.440A>G r.(?) p.(Gln147Arg) - Parent #1 - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 classified as class 3, 4 or 5 in 2/25800 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 - 2 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 2 UK Variant Sharing Initiative
?/. 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - Journal: Gao 2020 as reported in: PubMed: Suter 2004, Journal: Suter 2004, Kwong , PubMed: Kwong 2016, Journal: Kwong 2016, PubMed: Sung 2017, Journal: Sung 2017, Song Chen 2015 - - Germline - 5 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Suter 2004, Journal: Suter 2004, Kwong , PubMed: Kwong 2016, Journal: Kwong 2016, PubMed: Sung 2017, Journal: Sung 2017, Song Chen 2015 breast/ovarian cancer families/patients - - China - - - - - 5 Xianqi Gao
?/. - c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G - BRCA2(NM_000059.3):c.440A>G (p.Q147R, p.(Gln147Arg), p.Gln147Arg), BRCA2(NM_000059.4):c.440A>G (p.Q147R) - BRCA2_001582 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.440A>G r.(?) p.(Gln147Arg) - Parent #1 - NA g.32900252A>G - chr13_32900252_A_G - BRCA2_001582 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 - 54/60466 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 - 54 BRIDGES consortium
?/. - c.440A>G r.(?) p.(Gln147Arg) - Parent #1 - NA g.32900252A>G - chr13_32900252_A_G - BRCA2_001582 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 - 50/53461 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 - 50 BRIDGES consortium
?/. 5 c.440A>G r.(?) p.(Gln147Arg) - Unknown - VUS g.32900252A>G g.32326115A>G 440A>G - BRCA2_001582 - - - - Germline - - - - - DNA MLPA, SEQ-NG - CNV, analysis, NGS cancer, breast 288 - - - - Netherlands - - - - - 1 Annemarie H van der Hout
?/. - c.440A>G r.(?) p.(Gln147Arg) - Parent #1 - VUS g.32900252A>G g.32326115A>G - - BRCA2_001582 - PubMed: Dong 2021 - rs80358674 Germline - 19/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 15F/4M F;M - China - - - - - 19 Johan den Dunnen
-?/. - c.440A>G r.(?) p.(Gln147Arg) - Unknown - likely benign g.32900252A>G - BRCA2(NM_000059.3):c.440A>G (p.Q147R, p.(Gln147Arg), p.Gln147Arg), BRCA2(NM_000059.4):c.440A>G (p.Q147R) - BRCA2_001582 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.440A>G r.(?) p.(Gln147Arg) - Unknown - benign g.32900252A>G - BRCA2(NM_000059.3):c.440A>G (p.Q147R, p.(Gln147Arg), p.Gln147Arg), BRCA2(NM_000059.4):c.440A>G (p.Q147R) - BRCA2_001582 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.440A>G r.(?) p.(Gln147Arg) - Unknown - benign g.32900252A>G - BRCA2(NM_000059.3):c.440A>G (p.Q147R, p.(Gln147Arg), p.Gln147Arg), BRCA2(NM_000059.4):c.440A>G (p.Q147R) - BRCA2_001582 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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