ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9052_9057del (p.3015_3016KS[2]) (rs786202063)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164689 SCV000215356 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes),Moderate segregation with disease (at least 3 informative meioses) for rare diseases.
Color RCV000164689 SCV000684020 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-25 criteria provided, single submitter clinical testing
Counsyl RCV000410153 SCV000488041 uncertain significance Breast-ovarian cancer, familial 2 2015-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000235417 SCV000292529 uncertain significance not provided 2018-10-23 criteria provided, single submitter clinical testing This deletion of six nucleotides in BRCA2 is denoted c.9052_9057delAGTAAA at the cDNA level and p.Lys3019_Ser3020del at the protein level. The normal sequence, with the bases that are deleted in brackets, is TAAA[delAGTAAA]TCTG. Also published as BRCA2 c.9280_9285del (p.3014_3015delSK) using alternate nomenclature, this variant has been reported in at least one individual with breast cancer (de Juan Jim?nez 2012). BRCA2 Lys3019_Ser3020del was not observed in large population cohorts (Lek 2016). This deletion is located in the DNA binding domain (Yang 2002). In-silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect.? Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider BRCA2 Lys3019_Ser3020del to be a variant of uncertain significance.
Invitae RCV000548721 SCV000635714 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-29 criteria provided, single submitter clinical testing This sequence change deletes 6 nucleotides from exon 23 of the BRCA2 mRNA (c.9052_9057delAGTAAA). This leads to the deletion of 2 amino acid residues in the BRCA2 protein (p.Lys3019_Ser3020del) but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs763756705, ExAC 0.02%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 185294). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000235417 SCV000887953 uncertain significance not provided 2018-08-02 criteria provided, single submitter clinical testing

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