ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4552del (p.Glu1518fs) (rs398122783)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129446 SCV000184216 pathogenic Hereditary cancer-predisposing syndrome 2017-09-26 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)
Color RCV000129446 SCV000903715 pathogenic Hereditary cancer-predisposing syndrome 2016-05-16 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077730 SCV000327052 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000077730 SCV000489256 likely pathogenic Breast-ovarian cancer, familial 2 2016-09-11 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000204632 SCV000591908 pathogenic Hereditary breast and ovarian cancer syndrome 2014-04-16 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077730 SCV000300762 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine RCV000077730 SCV000839928 pathogenic Breast-ovarian cancer, familial 2 2017-11-10 criteria provided, single submitter clinical testing The c.4552delG frameshift variant in the BRCA2 gene is predicted to introduce a premature translation termination codon. It has been reported in multiple unrelated patients with breast cancer [PMID 16912212, 18284688]. A nonsense variant at the same position, c.4552G>T (p.Glu1518*), has also been reported in individuals with breast and ovarian cancer (PMID: 11897832). This variant in the BRCA2 gene is classified as pathogenic.
Invitae RCV000204632 SCV000261349 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1518Asnfs*25) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in the literature in individuals affected with breast cancer (PMID: 16912212, 18284688). This variant is also known as 4780delG in the literature. ClinVar contains an entry for this variant (Variation ID: 91822). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Pathway Genomics RCV000077730 SCV000207340 pathogenic Breast-ovarian cancer, familial 2 2014-11-06 no assertion criteria provided clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505840 SCV000296694 pathogenic not provided 2015-03-31 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077730 SCV000109533 pathogenic Breast-ovarian cancer, familial 2 2012-02-26 no assertion criteria provided clinical testing

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