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.

34 entries on 1 page. Showing entries 1 - 34.
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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)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

ID_report     

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Owner     
-/- 10 c.1792A>G r.(=) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897710 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 10 c.1792A>G r.(?) p.(Thr598Ala) - Parent #1 - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 10 c.1792A>G r.(?) p.(Thr598Ala) - Parent #1 - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 10 c.1792A>G r.(?) p.(Thr598Ala) - Parent #1 - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 10 c.1792A>G r.(?) p.(Thr598Ala) - Parent #1 - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 10 c.1792A>G r.(?) p.(Thr598Ala) - Parent #1 - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 10 c.1792A>G r.(?) p.(Thr598Ala) - Parent #1 - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/- 10 c.1792A>G r.(?) p.(Thr598Ala) - Parent #1 - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/. 10 c.1792A>G r.(?) p.Thr598Ala - Unknown - NA g.32907407A>G g.32333270A>G T598A - BRCA2_000066 co-occurrence with deleterious variant; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.1792A>G r.(?) p.Thr598Ala - Unknown - NA g.32907407A>G g.32333270A>G T598A - BRCA2_000066 Co-segregation in families; predicted neutral PubMed: Deffenbaugh 2002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - shared by Quest Diagnostics - rs28897710 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown kConFab likely benign g.32907407A>G g.32333270A>G BRCA2 2020 A>G (T598A) - BRCA2_000066 - kConFab variant classification: LCS - - Germline - 9/1658 - - - DNA SEQ - - cancer, breast - - 9 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 9 kConFab - Heather Thorne
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Parent #1 - benign g.32907407A>G g.32333270A>G 2020A>G-Thr598Ala (T598A) - BRCA2_000066 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 7 families (BRCA1/2 screening) - - Greece - - - - - 7 Florentia Fostira
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown ENIGMA benign g.32907407A>G g.32333270A>G T598A - BRCA2_000066 - - - rs28897710 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - rs28897710 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0598 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - rs28897710 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1232 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - rs28897710 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1467 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - rs28897710 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR0698 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - rs28897710 Germline - 6/1900 cases - - - DNA SEQ - - cancer, breast BR1289 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G BRCA2(NM_000059.3):c.1792A>G (p.T598A, p.(Thr598Ala)), BRCA2(NM_000059.4):c.1792A>G (p.T598A) - BRCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G BRCA2(NM_000059.3):c.1792A>G (p.T598A, p.(Thr598Ala)), BRCA2(NM_000059.4):c.1792A>G (p.T598A) - BRCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G BRCA2(NM_000059.3):c.1792A>G (p.T598A, p.(Thr598Ala)), BRCA2(NM_000059.4):c.1792A>G (p.T598A) - BRCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G BRCA2(NM_000059.3):c.1792A>G (p.T598A, p.(Thr598Ala)), BRCA2(NM_000059.4):c.1792A>G (p.T598A) - BRCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G BRCA2(NM_000059.3):c.1792A>G (p.T598A, p.(Thr598Ala)), BRCA2(NM_000059.4):c.1792A>G (p.T598A) - BRCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - - - rs28897710 Germline - 7/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown - VUS g.32907407A>G g.32333270A>G - - BRCA2_000066 - Journal: Gao 2020 as reported in: Yongtao Li 2014 - - Germline - 1 family/patient - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: Yongtao Li 2014 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
?/. - c.1792A>G r.(?) p.(Thr598Ala) - Parent #1 - VUS g.32907407A>G g.32333270A>G - - BRCA2_000066 classified as class 1, 2, 3, 4 or 5 in 14/25800 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 - 14 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 14 UK Variant Sharing Initiative
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Parent #1 - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - PubMed: Santonocito 2020 - rs28897710 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.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G - BRCA2(NM_000059.3):c.1792A>G (p.T598A, p.(Thr598Ala)), BRCA2(NM_000059.4):c.1792A>G (p.T598A) - BRCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1792A>G r.(?) p.(Thr598Ala) - Parent #1 - VUS g.32907407A>G g.32333270A>G - - BRCA2_000066 - PubMed: Dong 2021 - rs28897710 Germline - 1/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1F F - China - - - - - 1 Johan den Dunnen
-/. - c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G - BRCA2(NM_000059.3):c.1792A>G (p.T598A, p.(Thr598Ala)), BRCA2(NM_000059.4):c.1792A>G (p.T598A) - BRCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - Nodo Argentina Varioma, unpublished - rs28897710 Germline - - - - - DNA SEQ - - BROVCA BR2969 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - Nodo Argentina Varioma, unpublished - rs28897710 Germline - - - - - DNA SEQ - - BROVCA BR2997 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 10 c.1792A>G r.(?) p.(Thr598Ala) - Unknown - benign g.32907407A>G g.32333270A>G - - BRCA2_000066 - Nodo Argentina Varioma, unpublished - rs28897710 Germline - - - - - DNA SEQ - - BROVCA BR3019 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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