ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5157_5161del (p.Asn1719fs) (rs80359488)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113389 SCV000300837 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113389 SCV000327142 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Department of Medical Genetics,Oslo University Hospital RCV000113389 SCV000605696 pathogenic Breast-ovarian cancer, familial 2 2016-08-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000506049 SCV000605819 pathogenic Hereditary breast and ovarian cancer syndrome 2017-06-12 criteria provided, single submitter clinical testing The p.Asn1719fs has been reported in a least one European individual with heredi tary breast and/or ovarian cancer (HBOC; Breast Cancer Information Core (BIC) da tabase; https://research.nhgri.nih.gov/projects/bic/) and was absent from large population studies; though the ability of these studies to accurately detect ind els may be limited. This variant is predicted to cause a frameshift, which alter s the protein?s amino acid sequence beginning at position 1719 and leads to a pr emature termination codon 6 amino acids downstream. This alteration is then pred icted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA2 gene is an established disease mechanism in HBOC. Moreover, this vari ant was classified as pathogenic on September 8, 2016 by the ClinGen-approved EN IGMA expert panel (ClinVar SCV000300837.2). In summary, this variant meets crite ria to be classified as pathogenic for HBOC in an autosomal dominant manner base d upon the predicted impact to the protein and absence from controls.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113389 SCV000146549 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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