Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001087714 | SCV000073887 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-12-14 | criteria provided, single submitter | clinical testing | |
| Women's Health and 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. |
| Myriad Genetics, |
RCV000114141 | SCV004020270 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2023-03-10 | criteria provided, single submitter | clinical testing | This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752]. |
| Baylor Genetics | RCV003460635 | SCV004213639 | uncertain significance | Familial cancer of breast | 2024-02-08 | criteria provided, single submitter | clinical testing | |
| Breast Cancer Information Core |
RCV000114141 | SCV000147685 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2010-03-10 | no assertion criteria provided | clinical testing |