Full data view for gene BRCA2

All records describing functional studies of specific variants.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000059.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

ClassClinical     

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Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Segregation     

Frequency     

Re-site     

VIP     

Methylation     

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ID_report     

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-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - F ? Netherlands - - - - - 1 Rien Blok
-/- 27 c.9976A>T r.(=) p.(Lys3326X) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs11571833 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Xavier P. Pepermans
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Xavier P. Pepermans
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Xavier P. Pepermans
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Xavier P. Pepermans
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Xavier P. Pepermans
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Xavier P. Pepermans
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Xavier P. Pepermans
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Xavier P. Pepermans
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Xavier P. Pepermans
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Xavier P. Pepermans
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Xavier P. Pepermans
?/. 27 c.9976A>T ? p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T 10204A/T (K3326X) - BRCA2_000481 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 27 c.9976A>T ? p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 27 c.9976A>T ? p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 - PubMed: Farrugia 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 27 c.9976A>T ? p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 - PubMed: Hadjisavvas 2003 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 27 c.9976A>T ? p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 - PubMed: Johnson 2007 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 27 c.9976A>T - p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 Cell viability (in BRCA-/- cells); as wildtype control PubMed: Kuznetsov 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 27 c.9976A>T - p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T 10204A/T (K3326X) - BRCA2_000481 Prevalence in normal controls; predicted neutral PubMed: Mazoyer 1996 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 27 c.9976A>T ? p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 - PubMed: Salazar 2006 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 27 c.9976A>T - p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T 10204A/T (K3326X) - BRCA2_000481 Prevalence in normal controls; predicted neutral PubMed: Wagner 1999 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 27 c.9976A>T - p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T 10204A/T (K3326X) - BRCA2_000481 co-occurrence with deleterious variant; predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 27 c.9976A>T - p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T 10204A/T (K3326X) - BRCA2_000481 Centrosome amplification; as wildtype control PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 27 c.9976A>T - p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T 10204A/T (K3326X) - BRCA2_000481 Homology-directed repair assay; as wildtype control PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 27 c.9976A>T - p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T 10204A/T (K3326X) - BRCA2_000481 Survival assay with VC8 (after MMC treatment); as wildtype control PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 27 c.9976A>T - p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T 10204A/T (K3326X) - BRCA2_000481 Nuclear localisation; as wildtype control PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 27 c.9976A>T - p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T 10204A/T (K3326X) - BRCA2_000481 evolutionary conservation analysis; predicted neutral PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 27 c.9976A>T ? p.Lys3326* NA - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 - PubMed: Wu 2005 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 27 c.9976A>T r.(?) p.(Lys3326*) kConFab: PM - Unknown g.32972626A>T g.32398489A>T BRCA2 10204 A>T (K3326X) - BRCA2_000481 - kConFab variant classification: PM - - Germline - 33/1658 - 0 - DNA SEQ - - cancer, breast - - 33 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - 33 kConFab - Heather Thorne
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T 10204A>T-Lys3326ter (K3326X) - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - 13 families (BRCA1/2 screening) - - Greece - - 0 - - 13 Florentia Fostira
-/- 27 c.9976A>T r.(?) p.(Lys3326*) ENIGMA: 1 - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) ENIGMA: 1 - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) ENIGMA: 1 - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) ENIGMA: 1 - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) ENIGMA: 1 - Unknown g.32972626A>T g.32398489A>T K3326X - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T g.32398489A>T - - BRCA2_000481 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 = 0.00000000204. Also class 1 based on frequency >1% in an outbred sampleset. Frequency 0.01055 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria, Details in BRCA database Tavtigian lab, PubMed: Lindor 2012 - - SUMMARY record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR0483 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR0969 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR1024 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR1288 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR1187 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR1398 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR0762 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR0943 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 1/1900 cases - 0 - DNA SEQ - - cancer, breast BR1520 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR0564 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR0642 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR1499 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR0403 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR0470 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR1010 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR1373 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 1/1900 cases - 0 - DNA SEQ - - cancer, breast BR0438 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 1/1900 cases - 0 - DNA SEQ - - cancer, breast BR1353 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR1468 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR0497 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR0513 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/- 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - 24/1900 cases - 0 - DNA SEQ - - cancer, breast BR1465 - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
?/- 27 c.9976A>T r.(?) p.(Lys3326*) VUS - Unknown g.32972626A>T g.32398489A>T 10204A>T (K3326X) - BRCA2_000481 - PubMed: Torres 2007 - - Germline - 1/53 cases - 0 - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/- - c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T - BRCA2(NM_000059.3):c.9976A>T (p.K3326*) - BRCA2_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- - c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T - BRCA2(NM_000059.3):c.9976A>T (p.K3326*) - BRCA2_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- - c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T - BRCA2(NM_000059.3):c.9976A>T (p.K3326*) - BRCA2_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- - c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T - BRCA2(NM_000059.3):c.9976A>T (p.K3326*) - BRCA2_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/- - c.9976A>T r.(?) p.(Lys3326*) likely benign - Unknown g.32972626A>T - BRCA2(NM_000059.3):c.9976A>T (p.K3326*) - BRCA2_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- - c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T - BRCA2(NM_000059.3):c.9976A>T (p.K3326*) - BRCA2_000481 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T - - - BRCA2_000481 - - - rs11571833 Germline - 2/2300 cases - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T - - - BRCA2_000481 - - - rs11571833 Germline - 25/2300 cases - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-?/. 27 c.9976A>T r.(?) p.(Lys3326*) likely benign - Unknown g.32972626A>T - 10204A>T - BRCA2_000481 - PubMed: Jalkh 2012 - - Germline - - - 0 - DNA SEQ - - BROVCA - PubMed: Jalkh 2012 cases F - Lebanon - - 0 - - 1 Johan den Dunnen
+/. 27 c.9976A>T r.(?) p.(Lys3326*) pathogenic - Unknown g.32972626A>T - 3326A>T - BRCA2_000481 - PubMed: Hadjisavvas 2004 - - Germline - - - 0 - DNA SEQ - - BROVCA - PubMed: Hadjisavvas 2004 cases F - Cyprus - - 0 - - 1 Johan den Dunnen
+/. 27 c.9976A>T r.(?) p.(Lys3326*) pathogenic - Unknown g.32972626A>T - - - BRCA2_000481 - PubMed: Yassaee 2016 - - Germline - - - 0 - DNA SEQ - - BROVCA - PubMed: Yassaee 2016 cases F - Iran - - 0 - - 1 Johan den Dunnen
-/. - c.9976A>T r.(?) p.(Lys3326*) benign - Parent #1 g.32972626A>T - 9976A>T, 9976A>T - BRCA2_000481 - PubMed: Bhaskaran 2019 - (refs 68, 69, 77, 80) - rs11571833 Germline - 6/408 cases - 0 - DNA DHPLC - - cancer, breast BRCA1-var527 PubMed: Bhaskaran 2019 review Chinese BRCA1/2 case - - China - - 0 - - 6 Johan den Dunnen
-/. 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
-/. 27 c.9976A>T r.(?) p.(Lys3326*) benign - Unknown g.32972626A>T g.32398489A>T - - BRCA2_000481 - - - rs11571833 Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Argentina - - 0 - - 1 Angela Solano & F Cardoso
Legend