ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8332-1G>T (rs397507979)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164696 SCV000215364 pathogenic Hereditary cancer-predisposing syndrome 2014-06-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other acmg-defined mutation (i.e. initiation codon or gross deletion),Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000258264 SCV000327873 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586321 SCV000695145 likely pathogenic Hereditary breast and ovarian cancer syndrome 2017-05-26 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8332-1G>T variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 4/5 splice prediction tools predict a weakening of the canonical splice donor site while 3/5 splice prediction tools predict the variant to activate a cryptic splice donor site. However, these predictions have yet to be confirmed by functional studies. The variant of interest has not been found in a large, broad control population, ExAC in 121260 control chromosomes. This variant was reported in one study in a BC patient with extensive BC history (Becker_Breast Cancer Res Treat_2012). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as likely pathogenic.

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