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.

50 entries on 1 page. Showing entries 1 - 50.
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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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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

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Re-site     

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Methylation     

Template     

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Tissue     

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Disease     

ID_report     

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-/- 11 c.4258G>T r.(=) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs28897727 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Parent #1 - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Parent #1 - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Parent #1 - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Parent #1 - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/. 11 c.4258G>T r.(?) p.Asp1420Tyr - Unknown - NA g.32912750G>T g.32338613G>T D1420Y (G>T) - BRCA2_000115 Bayesian statistics; predicted deleterious PubMed: Scott 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.4258G>T r.(?) p.Asp1420Tyr - Unknown - NA g.32912750G>T g.32338613G>T D1420Y (G>T) - BRCA2_000115 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.4258G>T r.(?) p.Asp1420Tyr - Unknown - NA g.32912750G>T g.32338613G>T D1420Y (G>T) - BRCA2_000115 - personal communication - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - shared by Quest Diagnostics - rs28897727 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown kConFab likely benign g.32912750G>T g.32338613G>T BRCA2 4486 G>T (D1420Y) - BRCA2_000115 - kConFab variant classification: LCS - - Germline - 13/1658 - - - DNA SEQ - - cancer, breast - - 13 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 13 kConFab - Heather Thorne
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Parent #1 - benign g.32912750G>T g.32338613G>T 4486G>T-Asp1420Tyr (D1420Y) - BRCA2_000115 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - 13 families (BRCA1/2 screening) - - Greece - - - - - 13 Florentia Fostira
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown ENIGMA benign g.32912750G>T g.32338613G>T D1420Y - BRCA2_000115 - - - rs28897727 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown ENIGMA benign g.32912750G>T g.32338613G>T D1420Y - BRCA2_000115 - - - rs28897727 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown ENIGMA benign g.32912750G>T g.32338613G>T D1420Y - BRCA2_000115 - - - rs28897727 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Parent #1 - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon 2008 (PMID:18951446). Class 1 based on posterior probability = 0.000102 ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR0599 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR0887 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR1040 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR0550 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR0692 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR1057 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR1095 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR1150 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1194 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2049 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR0386 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR0637 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR1170 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1263 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2056 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR2039 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR1450 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 17/1900 cases - - - DNA SEQ - - cancer, breast BR2077 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1179 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- - c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T BRCA2(NM_000059.3):c.4258G>T (p.D1420Y, p.(Asp1420Tyr)), BRCA2(NM_000059.4):c.4258G>T (p.D1420Y) - BRCA2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T BRCA2(NM_000059.3):c.4258G>T (p.D1420Y, p.(Asp1420Tyr)), BRCA2(NM_000059.4):c.4258G>T (p.D1420Y) - BRCA2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T BRCA2(NM_000059.3):c.4258G>T (p.D1420Y, p.(Asp1420Tyr)), BRCA2(NM_000059.4):c.4258G>T (p.D1420Y) - BRCA2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T BRCA2(NM_000059.3):c.4258G>T (p.D1420Y, p.(Asp1420Tyr)), BRCA2(NM_000059.4):c.4258G>T (p.D1420Y) - BRCA2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- - c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T BRCA2(NM_000059.3):c.4258G>T (p.D1420Y, p.(Asp1420Tyr)), BRCA2(NM_000059.4):c.4258G>T (p.D1420Y) - BRCA2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Parent #1 - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - contributed by Dept. of Dr Vaccaro - - Germline - - - - - DNA SEQ - - ? - contributed by Dept. of Dr Vaccaro - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 19/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - 19/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - pathogenic g.32912750G>T g.32338613G>T 4486G>T - BRCA2_000115 - PubMed: El-Harith 2002, Journal: Laitman 2019 - - Germline - 1/29 cases - - - DNA SEQ - - BROVCA - PubMed: El-Harith 2002, Journal: Laitman 2019 cases F - Saudi Arabia Arab - - - - 1 Eitan Friedman
-/. 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 11 c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - - - rs28897727 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T g.32338613G>T BRCA2(NM_000059.3):c.4258G>T (p.D1420Y, p.(Asp1420Tyr)), BRCA2(NM_000059.4):c.4258G>T (p.D1420Y) - BRCA2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4258G>T r.(?) p.(Asp1420Tyr) - Parent #1 - benign g.32912750G>T g.32338613G>T - - BRCA2_000115 - PubMed: Dong 2021 - rs28897727 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.4258G>T r.(?) p.(Asp1420Tyr) - Unknown - benign g.32912750G>T - BRCA2(NM_000059.3):c.4258G>T (p.D1420Y, p.(Asp1420Tyr)), BRCA2(NM_000059.4):c.4258G>T (p.D1420Y) - BRCA2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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