ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4449del (p.Asp1484fs) (rs80359448)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163360 SCV000213896 pathogenic Hereditary cancer-predisposing syndrome 2018-02-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA2) RCV000031485 SCV000146423 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000163360 SCV000688876 pathogenic Hereditary cancer-predisposing syndrome 2017-09-28 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031485 SCV000327035 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031485 SCV000488692 pathogenic Breast-ovarian cancer, familial 2 2016-05-27 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000031485 SCV000744455 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000031485 SCV000733256 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000031485 SCV000300747 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000412671 SCV000210751 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.4449delA at the cDNA level and p.Asp1484ThrfsX2 (D1484TfsX2) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AAAC[delA]GACA. The deletion causes a frameshift, which changes an Aspartic Acid to a Threonine at codon 1484, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.4449delA, previously reported as BRCA2 4677delA, has been reported in association with Hereditary Breast and Ovarian Cancer (Meindl 2002, Leegte 2005, Borg 2010). We consider this variant to be pathogenic.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785220 SCV000923788 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000031485 SCV000296647 pathogenic Breast-ovarian cancer, familial 2 2015-07-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000412671 SCV000887818 pathogenic not provided 2015-07-18 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496426 SCV000587713 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031485 SCV000054090 pathogenic Breast-ovarian cancer, familial 2 2012-03-19 no assertion criteria provided clinical testing

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