ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5599_5602ACAG[1] (p.Asp1868fs) (rs397507356)

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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) RCV000031559 SCV000300903 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 RCV000031559 SCV000327241 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000456296 SCV000549626 pathogenic Hereditary breast and ovarian cancer syndrome 2016-08-22 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 11 of the BRCA2 mRNA (c.5603_5606delACAG), causing a frameshift at codon 1868. This creates a premature translational stop signal (p.Asp1868Valfs*5) and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000657342 SCV000779074 pathogenic not provided 2017-06-26 criteria provided, single submitter clinical testing This deletion of four nucleotides in BRCA2 is denoted c.5603_5606delACAG at the cDNA level and p.Asp1868ValfsX5 (D1868VfsX5) at the protein level. The normal sequence, with the bases that are deleted in brackets, is ACAG[delACAG]TTTC. The deletion causes a frameshift which changes an Aspartic Acid to a Valine at codon 1868, and creates a premature stop codon at position 5 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031559 SCV000054164 pathogenic Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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