ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5611_5615AGTAA[1] (p.Lys1872fs) (rs80359525)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131113 SCV000186043 pathogenic Hereditary cancer-predisposing syndrome 2017-09-06 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)
Baylor Genetics RCV000473703 SCV000540999 pathogenic Familial cancer of breast 2017-02-23 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077356 SCV000146646 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131113 SCV000683715 pathogenic Hereditary cancer-predisposing syndrome 2017-02-21 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077356 SCV000327245 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077356 SCV000677687 pathogenic Breast-ovarian cancer, familial 2 2017-02-08 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000077356 SCV000883123 likely pathogenic Breast-ovarian cancer, familial 2 2018-11-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077356 SCV000300906 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 RCV000044697 SCV000210812 pathogenic not provided 2018-02-09 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.5616_5620delAGTAA at the cDNA level and p.Lys1872AsnfsX2 (K1872NfsX2) at the protein level. The normal sequence, with the bases that are deleted in brackets, is GTAA[delAGTAA]TTAA. The deletion causes a frameshift, which changes a Lysine to an Asparagine at codon 1872, 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.5616_5620delAGTAA, previously reported as BRCA2 5844del5 and 5611_5615del using alternate nomenclature, has been reported in association with Hereditary Breast and Ovarian Cancer (Pal 2004, Borg 2010, Wang 2011, Hernandez 2014, McFarland 2015, Natarajan 2016, Cock-Rada 2017, Pritzlaff 2017). We consider this variant to be pathogenic.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000077356 SCV000993556 pathogenic Breast-ovarian cancer, familial 2 2018-09-11 criteria provided, single submitter research
Invitae RCV000195403 SCV000072710 pathogenic Hereditary breast and ovarian cancer syndrome 2019-01-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys1872Asnfs*2) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs763069721, ExAC 0.02%). This variant has been reported in individuals and families affected with breast cancer (PMID: 15533909, 20104584, 24742220, 26681312, 25428789, 28008555). This variant is also known as 5844del5 in the literature. ClinVar contains an entry for this variant (Variation ID: 51892). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000044697 SCV000778688 pathogenic not provided 2017-03-09 no assertion criteria provided clinical testing
Mendelics RCV000195403 SCV000838816 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000044697 SCV000296679 pathogenic not provided 2015-04-27 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000195403 SCV000587781 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077356 SCV000109153 pathogenic Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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