ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9648+10T>G (rs81002835)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000114141 SCV000147685 uncertain significance Breast-ovarian cancer, familial 2 2010-03-10 no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588518 SCV000695258 uncertain significance not provided 2017-06-12 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9648+10T>G variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a benign outcome for this variant. 3/5 splice prediction tools predict an impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/246256 control chromosomes in gnomAD at a frequency of 0.0000081, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as uncertain significance, including one database indicating that the variant co-occurred with a potentially pathogenic BRCA1 variant, c.4611_4612insG (p.Gln1537_Gln1538fs). The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.
Invitae RCV000045874 SCV000073887 likely benign Hereditary breast and ovarian cancer syndrome 2017-07-26 criteria provided, single submitter clinical testing

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