ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3478_3481delinsTGAGGA (p.Arg1160_Asp1161delinsTer) (rs1064792961)

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Total submissions: 3
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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) RCV000661571 SCV000783865 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000474589 SCV000549589 pathogenic Hereditary breast and ovarian cancer syndrome 2016-09-20 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides and inserts 6 nucleotides in exon 11 of the BRCA2 mRNA (c.3478_3481delAGAGinsTGAGGA). This creates a premature translational stop signal (p.Arg1160*) 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 RCV000657817 SCV000779572 pathogenic not provided 2016-11-30 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted BRCA2 c.3478_3481delAGAGinsTGAGGA at the cDNA level and p.Arg1160Ter (R1160X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 3706_3709delAGAGinsTGAGGA. The surrounding sequence is ATGC[delAGAG][insTGAGGA]ATGC. The deletion/insertion creates a nonsense variant, which changes an Arginine to a premature stop codon. 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 and is considered pathogenic.

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