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.

59 entries on 1 page. Showing entries 1 - 59.
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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     
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
?/? 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 3 c.198A>G r.(=) p.(=) - Parent #1 - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
?/? 3 c.198A>G r.(=) p.(=) - Parent #1 - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown - - - - - DNA MLPA, SEQ, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
?/? 3 c.198A>G r.(=) p.(=) - Parent #1 - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/? 3 c.198A>G r.(=) p.(=) - Parent #1 - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/? 3 c.198A>G r.(=) p.(=) - Parent #1 - VUS g.32893344A>G g.32319207A>G 426A/G (66 Gln to Gln) - BRCA2_001203 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 3 c.198A>G r.(=) p.(=) - Parent #1 - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
-/. 3 c.198A>G r.(=) p.(=) - Unknown - benign g.32893344A>G g.32319207A>G - - BRCA2_001203 - shared by Quest Diagnostics - rs28897700 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/. - c.198A>G r.(=) p.(=) - Parent #1 - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - rs28897700 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/? 3 c.198A>G r.(=) p.(=) - Unknown kConFab likely pathogenic g.32893344A>G g.32319207A>G BRCA2 426 A>G (Q66Q) - BRCA2_001203 - kConFab variant classification: SV - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
?/. 3 c.198A>G r.(=) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P14-5159 - 1 Arjen Mensenkamp
?/. 3 c.198A>G r.(?) p.(=) - Parent #1 - VUS g.32893344A>G g.32319207A>G 426A>G-Gln66Gln (Q66Q) - BRCA2_001203 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 4 families (BRCA1/2 screening) - - Greece - - - - - 4 Florentia Fostira
-/. 3 c.198A>G r.(?) p.(Gln66=) - Unknown - benign g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - rs28897700 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR0872 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.198A>G r.(?) p.(Gln66=) - Unknown - benign g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - rs28897700 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1316 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.198A>G r.(?) p.(Gln66=) - Unknown - benign g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - rs28897700 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR1204 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast ? - - - - Belgium - - - - - 1 Katrien Storm
?/. 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
?/. 3 c.198A>G r.(?) p.(=) - Unknown - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
-?/. - c.198A>G r.(?) p.(Gln66=) - Unknown - likely benign g.32893344A>G g.32319207A>G BRCA2(NM_000059.3):c.198A>G (p.Q66=, p.(Gln66=), p.Gln66=), BRCA2(NM_000059.4):c.198A>G (p.Q66=) - BRCA2_001203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.198A>G r.(?) p.(Gln66=) - Unknown - benign g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - rs28897700 Germline - 5/2300 cases - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
-/. 3 c.198A>G r.(?) p.(Gln66=) - Unknown - benign g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - rs28897700 Germline - 5/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 3 c.198A>G r.(?) p.(Gln66=) - Unknown - benign g.32893344A>G g.32319207A>G - - BRCA2_001203 - - - rs28897700 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-?/. - c.198A>G r.(?) p.(Gln66=) - Unknown - likely benign g.32893344A>G g.32319207A>G BRCA2(NM_000059.3):c.198A>G (p.Q66=, p.(Gln66=), p.Gln66=), BRCA2(NM_000059.4):c.198A>G (p.Q66=) - BRCA2_001203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.198A>G r.(?) p.(Gln66=) - Unknown - benign g.32893344A>G g.32319207A>G BRCA2(NM_000059.3):c.198A>G (p.Q66=, p.(Gln66=), p.Gln66=), BRCA2(NM_000059.4):c.198A>G (p.Q66=) - BRCA2_001203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.198A>G r.(?) p.(Gln66=) - Unknown - benign g.32893344A>G g.32319207A>G BRCA2(NM_000059.3):c.198A>G (p.Q66=, p.(Gln66=), p.Gln66=), BRCA2(NM_000059.4):c.198A>G (p.Q66=) - BRCA2_001203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.198A>G r.(?) p.(Gln66=) - Unknown - benign g.32893344A>G g.32319207A>G BRCA2(NM_000059.3):c.198A>G (p.Q66=, p.(Gln66=), p.Gln66=), BRCA2(NM_000059.4):c.198A>G (p.Q66=) - BRCA2_001203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.198A>G r.(?) p.(=) - Parent #1 - VUS g.32893344A>G g.32319207A>G - - BRCA2_001203 classified as class 1, 2, 3, 4 or 5 in 1/12850 targeted tests and 4/25800 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 - 5 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 5 UK Variant Sharing Initiative
-/. - c.198A>G r.(?) p.(Gln66=) - Parent #1 - benign g.32893344A>G g.32319207A>G - - BRCA2_001203 - PubMed: Dong 2021 - rs28897700 Germline - 3/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 3F F - China - - - - - 3 Johan den Dunnen
?/. 3 c.198A>G r.(=) p.(=) - Unknown ACMG benign g.32893344A>G - c.198A>G - BRCA2_001203 classification based on multiple evidence types incl. bioinformatics, RNA analysis, mini-gene splicing assays, clinical data, etc. PubMed: Thomassen 2022 - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198A>G r.(?) p.(Gln66=) - Unknown - likely benign g.32893344A>G - BRCA2(NM_000059.3):c.198A>G (p.Q66=, p.(Gln66=), p.Gln66=), BRCA2(NM_000059.4):c.198A>G (p.Q66=) - BRCA2_001203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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