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.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 11 c.1938C>T r.(=) p.(=) - Unknown - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897711 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 11 c.1938C>T r.(=) p.(=) - Parent #1 - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.1938C>T r.(=) p.(=) - Parent #1 - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/. 11 c.1938C>T r.(=) p.(=) - Unknown - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - shared by Quest Diagnostics - rs28897711 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.1938C>T r.(=) p.(=) - Unknown kConFab benign g.32910430C>T g.32336293C>T BRCA2 2166 C>T (S646S) - BRCA2_002001 - kConFab variant classification: PM - - Germline - 4/1658 - - - DNA SEQ - - cancer, breast - - 4 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 4 kConFab - Heather Thorne
-/. 11 c.1938C>T r.(?) p.(=) - Parent #1 - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 2 families (BRCA1/2 screening) - - Greece - - - - - 2 Florentia Fostira
-/. 11 c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - - - rs28897711 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR0341 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - - - rs28897711 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR1088 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - - - rs28897711 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1526 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - - - rs28897711 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR1285 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - - - rs28897711 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR1493 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T BRCA2(NM_000059.3):c.1938C>T (p.S646=, p.(Ser646=)), BRCA2(NM_000059.4):c.1938C>T (p.S646=) - BRCA2_002001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - - - rs28897711 Germline - 6/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - - - rs28897711 Germline - 6/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T BRCA2(NM_000059.3):c.1938C>T (p.S646=, p.(Ser646=)), BRCA2(NM_000059.4):c.1938C>T (p.S646=) - BRCA2_002001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T BRCA2(NM_000059.3):c.1938C>T (p.S646=, p.(Ser646=)), BRCA2(NM_000059.4):c.1938C>T (p.S646=) - BRCA2_002001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T BRCA2(NM_000059.3):c.1938C>T (p.S646=, p.(Ser646=)), BRCA2(NM_000059.4):c.1938C>T (p.S646=) - BRCA2_002001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1938C>T r.(?) p.(=) - Parent #1 - VUS g.32910430C>T g.32336293C>T - - BRCA2_002001 classified as class 1, 2, 3, 4 or 5 in 17/25800 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 - 17 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 17 UK Variant Sharing Initiative
-/. - c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T - BRCA2(NM_000059.3):c.1938C>T (p.S646=, p.(Ser646=)), BRCA2(NM_000059.4):c.1938C>T (p.S646=) - BRCA2_002001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T - BRCA2(NM_000059.3):c.1938C>T (p.S646=, p.(Ser646=)), BRCA2(NM_000059.4):c.1938C>T (p.S646=) - BRCA2_002001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T - BRCA2(NM_000059.3):c.1938C>T (p.S646=, p.(Ser646=)), BRCA2(NM_000059.4):c.1938C>T (p.S646=) - BRCA2_002001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - Nodo Argentina Varioma, unpublished - rs28897711 Germline - - - - - DNA SEQ - - BROVCA BR3084 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.1938C>T r.(?) p.(Ser646=) - Unknown - benign g.32910430C>T g.32336293C>T - - BRCA2_002001 - Nodo Argentina Varioma, unpublished - rs28897711 Germline - - - - - DNA SEQ - - BROVCA BR3317 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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