Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112440 | SCV000300178 | 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 |
RCV000112440 | SCV000326075 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000574935 | SCV000668383 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-09-19 | criteria provided, single submitter | clinical testing | The p.E1661* pathogenic mutation (also known as c.4981G>T), located in coding exon 14 of the BRCA1 gene, results from a G to T substitution at nucleotide position 4981. This changes the amino acid from a glutamic acid to a stop codon within coding exon 14. This mutation was identified in multiple Korean patients with breast and ovarian cancer (Kang E et al. Breast Cancer Res. Treat., 2015 May;151:157-68; Choi DH et al. J. Clin. Oncol., 2004 May;22:1638-45; Kim H et al. Breast Cancer Res. Treat., 2012 Aug;134:1315-26; Ahn SH et al. Cancer Lett., 2007 Jan;245:90-5). 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. |
Invitae | RCV001380796 | SCV001578962 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-01-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1661*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer and/or ovarian cancer (PMID: 15117986, 30309222). ClinVar contains an entry for this variant (Variation ID: 55338). For these reasons, this variant has been classified as Pathogenic. |
Breast Cancer Information Core |
RCV000112440 | SCV000145230 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-06-20 | no assertion criteria provided | clinical testing | |
Brotman Baty Institute, |
RCV000112440 | SCV001243873 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |