ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4405_4409del (p.Asp1469fs) (rs397507331)

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Total submissions: 9
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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) RCV000031480 SCV000300740 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 RCV000160289 SCV000210750 pathogenic not provided 2017-08-04 criteria provided, single submitter clinical testing This deletion of five nucleotides in BRCA2 is denoted c.4405_4409delGACAT at the cDNA level and p.Asp1469LysfsX11 (D1469KfsX11) at the protein level. Using alternate nomenclature, this variant may be defined as BRCA2 4633_4637delGACAT, 4633del5, or 4404_4408delTGACA. The normal sequence, with the bases that are deleted in brackets, is TTCT[delGACAT]AAGA. The deletion causes a frameshift, which changes an Aspartic Acid to a Lysine at codon 1469 and creates a premature stop codon at position 11 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.4405_4409delGACAT has been observed in at least one individual with triple negative breast cancer (Wong-Brown 2015). We consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031480 SCV000327027 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031480 SCV000488393 likely pathogenic Breast-ovarian cancer, familial 2 2016-03-17 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000257920 SCV000591903 pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
Ambry Genetics RCV000566803 SCV000665983 pathogenic Hereditary cancer-predisposing syndrome 2016-02-08 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 RCV000566803 SCV000683617 pathogenic Hereditary cancer-predisposing syndrome 2015-04-07 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031480 SCV000054085 pathogenic Breast-ovarian cancer, familial 2 2010-08-18 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000257920 SCV000587711 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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