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.

39 entries on 1 page. Showing entries 1 - 39.
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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.5199C>T r.(=) p.(=) - Parent #1 - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.5199C>T r.(=) p.(=) - Parent #1 - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.5199C>T r.(=) p.(=) - Parent #1 - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/. 11 c.5199C>T r.(=) p.(=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - shared by Quest Diagnostics - rs28897734 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.5199C>T r.(=) p.(=) - Unknown kConFab benign g.32913691C>T g.32339554C>T BRCA2 5427 C>T (S1733S) - BRCA2_002206 - kConFab variant classification: PM - - Germline - 10/1658 - - - DNA SEQ - - cancer, breast - - 10 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 10 kConFab - Heather Thorne
-?/- 11 c.5199C>T r.(?) p.(=) - Unknown - likely benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast - - - - no Argentina European - - - - 1 Roxana Cerretini
?/. 11 c.5199C>T r.(?) p.(=) - Parent #1 - VUS g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 3 families (BRCA1/2 screening) - - Greece - - - - - 3 Florentia Fostira
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown ENIGMA benign g.32913691C>T g.32339554C>T S1733S - BRCA2_002206 - - - rs28897734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown ENIGMA benign g.32913691C>T g.32339554C>T S1733S - BRCA2_002206 - - - rs28897734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - 8/1900 cases - - - DNA SEQ - - cancer, breast BR1056 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - 8/1900 cases - - - DNA SEQ - - cancer, breast BR1414 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR0882 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - 8/1900 cases - - - DNA SEQ - - cancer, breast BR0990 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - 8/1900 cases - - - DNA SEQ - - cancer, breast BR1419 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - 8/1900 cases - - - DNA SEQ - - cancer, breast BR2059 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2054 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - 8/1900 cases - - - DNA SEQ - - cancer, breast BR1136 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - 8/1900 cases - - - DNA SEQ - - cancer, breast BR0900 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T BRCA2(NM_000059.3):c.5199C>T (p.S1733=, p.(Ser1733=)), BRCA2(NM_000059.4):c.5199C>T (p.S1733=) - BRCA2_002206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Parent #1 - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - 10/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - 10/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(=) - Parent #1 - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs28897734 Germline - 5/7051 cases breast cancer - - - DNA SEQ - - cancer, breast 30287823-cases-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 7051 female breast cancer cases F - Japan - - - - - 5 Yukihide Momozawa
-/. 11 c.5199C>T r.(?) p.(=) - Parent #1 - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs28897734 Germline - 10/11241 controls - - - DNA SEQ - - Healthy/Control 30287823-controls-F PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 11241 controls F - Japan - - - - - 10 Yukihide Momozawa
-/. - c.5199C>T r.(?) p.(=) - Parent #1 - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - PubMed: Momozawa 2018, Journal: Momozawa 2018 - rs28897734 Germline - 10/12490 controls - - - DNA SEQ - - Healthy/Control -controls-M PubMed: Momozawa 2018, Journal: Momozawa 2018 analysis 12490 male controls M - Japan - - - - - 10 Yukihide Momozawa
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - - - rs28897734 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T BRCA2(NM_000059.3):c.5199C>T (p.S1733=, p.(Ser1733=)), BRCA2(NM_000059.4):c.5199C>T (p.S1733=) - BRCA2_002206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T BRCA2(NM_000059.3):c.5199C>T (p.S1733=, p.(Ser1733=)), BRCA2(NM_000059.4):c.5199C>T (p.S1733=) - BRCA2_002206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T BRCA2(NM_000059.3):c.5199C>T (p.S1733=, p.(Ser1733=)), BRCA2(NM_000059.4):c.5199C>T (p.S1733=) - BRCA2_002206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T BRCA2(NM_000059.3):c.5199C>T (p.S1733=, p.(Ser1733=)), BRCA2(NM_000059.4):c.5199C>T (p.S1733=) - BRCA2_002206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T BRCA2(NM_000059.3):c.5199C>T (p.S1733=, p.(Ser1733=)), BRCA2(NM_000059.4):c.5199C>T (p.S1733=) - BRCA2_002206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5199C>T r.(?) p.(Ser1733=) - Parent #1 - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - PubMed: Dong 2021 - rs28897734 Germline - 50/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 42F/8M F;M - China - - - - - 50 Johan den Dunnen
-/. - c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T - BRCA2(NM_000059.3):c.5199C>T (p.S1733=, p.(Ser1733=)), BRCA2(NM_000059.4):c.5199C>T (p.S1733=) - BRCA2_002206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - Nodo Argentina Varioma, unpublished - rs28897734 Germline - - - - - DNA SEQ - - BROVCA BR2957 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - Nodo Argentina Varioma, unpublished - rs28897734 Germline - - - - - DNA SEQ - - BROVCA BR2951 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - Nodo Argentina Varioma, unpublished - rs28897734 Germline - - - - - DNA SEQ - - BROVCA BR3141 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - Nodo Argentina Varioma, unpublished - rs28897734 Germline - - - - - DNA SEQ - - BROVCA BR3195 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - Nodo Argentina Varioma, unpublished - rs28897734 Germline - - - - - DNA SEQ - - BROVCA BR3233 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.5199C>T r.(?) p.(Ser1733=) - Unknown - benign g.32913691C>T g.32339554C>T - - BRCA2_002206 - Nodo Argentina Varioma, unpublished - rs28897734 Germline - - - - - DNA SEQ - - BROVCA BR3335 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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