ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1362del (p.Lys454fs) (rs80359282)

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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) RCV000238971 SCV000323982 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000236143 SCV000293345 pathogenic not provided 2016-11-29 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.1362delA at the cDNA level and p.Lys454AsnfsX6(K454NfsX6) at the protein level. The normal sequence, with the base that is deleted in brackets, is CAAA[delA]TCAG. The deletion causes a frameshift, which changes a Lysine to an Asparagine at codon 454, and creates a premature stop codon at position 6 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.1362delA, also reported as 1590delA using alternate nomenclature, has been observed in at least one individual with breast cancer (Fackenthal 2012). We consider this variant to be pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238971 SCV000296570 pathogenic Breast-ovarian cancer, familial 2 2016-02-20 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000238971 SCV000326543 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496869 SCV000587594 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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