Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000637903 | SCV000759383 | likely benign | Hereditary breast ovarian cancer syndrome | 2021-01-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002455961 | SCV002617201 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Department of Pathology and Laboratory Medicine, |
RCV000500556 | SCV000591443 | likely benign | not provided | no assertion criteria provided | clinical testing | The BRCA1 p.Ser1130Ser variant was not identified in the literature, nor was it identified any of the following databases: dbSNP, NHLBI Exome Sequencing Project, HGMD, UMD, BIC, LOVD, and COSMIC. The variant does not result in a change of amino acid, and occurs outside of the splicing consensus sequence but four in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, HumanSpliceFinder) predict a greater than 10% difference in splicing. However, the prediction is the abolishment of a splicing acceptor site for a nucleotide residue that occurs 707bp from the known splicing consensus site for exon 11. Thus, this finding is not likely to have functional or clinical significance. In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign. |