Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111983 | SCV000299873 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000111983 | SCV000325531 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433544 | SCV002753854 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | The p.S1007* pathogenic mutation (also known as c.3020C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 3020. This changes the amino acid from a serine to a stop codon within coding exon 9. This alteration has been identified in several hereditary breast and ovarian cancer (HBOC) families (Kroiss R et al. Hum. Mutat., 2005 Dec;26:583-9; Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620; Manchana T et al. World J Clin Oncol, 2019 Nov;10:358-368). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Breast Cancer Information Core |
RCV000111983 | SCV000144611 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing |