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.

41 entries on 1 page. Showing entries 1 - 41.
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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     
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Parent #1 - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/? 10 c.831T>G r.(?) p.(Asn277Lys) - Parent #1 - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
?/. 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - p15-1683 - 1 Arjen Mensenkamp
?/. 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P14-3226 - 1 Arjen Mensenkamp
?/-? 10 c.831T>G r.(?) p.(Asn277Lys) - Parent #1 - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
?/. 10 c.831T>G r.(?) p.(Asn277Lys) - Parent #1 - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
?/. 10 c.831T>G r.(?) p.(Asn277Lys) - Parent #1 - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
?/. 10 c.831T>G r.(?) p.(Asn277Lys) - Parent #1 - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
?/. 10 c.831T>G r.(?) p.(Asn277Lys) - Parent #1 - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Unknown - - - - - DNA SEQ - - ? - - - - - Netherlands - - - - - 1 Rien Blok
?/. 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-?/. - c.831T>G r.(?) p.(Asn277Lys) - Unknown - likely benign g.32906446T>G g.32332309T>G BRCA2(NM_000059.3):c.831T>G (p.N277K, p.(Asn277Lys)), BRCA2(NM_000059.4):c.831T>G (p.N277K) - BRCA2_001267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831T>G r.(?) p.(Asn277Lys) - Unknown - likely benign g.32906446T>G g.32332309T>G BRCA2(NM_000059.3):c.831T>G (p.N277K, p.(Asn277Lys)), BRCA2(NM_000059.4):c.831T>G (p.N277K) - BRCA2_001267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831T>G r.(?) p.(Asn277Lys) - Unknown - likely benign g.32906446T>G g.32332309T>G BRCA2(NM_000059.3):c.831T>G (p.N277K, p.(Asn277Lys)), BRCA2(NM_000059.4):c.831T>G (p.N277K) - BRCA2_001267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831T>G r.(?) p.(Asn277Lys) - Unknown - likely benign g.32906446T>G g.32332309T>G BRCA2(NM_000059.3):c.831T>G (p.N277K, p.(Asn277Lys)), BRCA2(NM_000059.4):c.831T>G (p.N277K) - BRCA2_001267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831T>G r.(?) p.(Asn277Lys) - Unknown - likely benign g.32906446T>G g.32332309T>G BRCA2(NM_000059.3):c.831T>G (p.N277K, p.(Asn277Lys)), BRCA2(NM_000059.4):c.831T>G (p.N277K) - BRCA2_001267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.831T>G r.(?) p.(Asn277Lys) - Unknown - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - PubMed: Schwartz 2019 - - Germline - - - - - DNA SEQ - - cancer, pancreatic - PubMed: Schwartz 2019 - - - - - - - - - 1 Mathias Schwartz
?/. - c.831T>G r.(?) p.(Asn277Lys) - Parent #1 - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 classified as class 3, 4 or 5 in 2/12850 targeted tests and 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 - 8 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 8 UK Variant Sharing Initiative
-?/. - c.831T>G r.(?) p.(Asn277Lys) - Unknown ACMG likely benign g.32906446T>G g.32332309T>G - - BRCA2_001267 ACMG grading: BP2,BP6; together with truncating variant in BRCA2, patient with single BC at age 62y; Kote-Jarai et al. 2011. Br 105: 1230; Maxwell et al. 2016. Am 98: 801 - - rs28897705 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
?/. 10 c.831T>G r.(?) p.(Asn277Lys) - Parent #1 - VUS g.32906446T>G g.32332309T>G - - BRCA2_001267 - PubMed: Santonocito 2020 - rs28897705 Germline - 1/2351 cases - - - DNA SEQ-NG - BRCA1/2 sequencing BROVCA ? PubMed: Santonocito 2020 analysis 2351 breast/ovarian cancer patients - - Italy - - - - - 1 Johan den Dunnen
?/. - c.831T>G r.(?) p.(Asn277Lys) - Parent #1 - NA g.32906446T>G - chr13_32906446_T_G - BRCA2_001267 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 - 13/60466 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 - 13 BRIDGES consortium
?/. - c.831T>G r.(?) p.(Asn277Lys) - Parent #1 - NA g.32906446T>G - chr13_32906446_T_G - BRCA2_001267 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 - 12/53461 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 - 12 BRIDGES consortium
-?/. - c.831T>G r.(?) p.(Asn277Lys) - Unknown - likely benign g.32906446T>G - BRCA2(NM_000059.3):c.831T>G (p.N277K, p.(Asn277Lys)), BRCA2(NM_000059.4):c.831T>G (p.N277K) - BRCA2_001267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.831T>G r.(?) p.(Asn277Lys) - Unknown - likely benign g.32906446T>G - BRCA2(NM_000059.3):c.831T>G (p.N277K, p.(Asn277Lys)), BRCA2(NM_000059.4):c.831T>G (p.N277K) - BRCA2_001267 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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