Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000031034 | SCV000299709 | 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. |
Ambry Genetics | RCV000162852 | SCV000213339 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-02-10 | criteria provided, single submitter | clinical testing | The p.E720* pathogenic mutation (also known as c.2158G>T), located in coding exon 9 of the BRCA1 gene, results from a G to T substitution at nucleotide position 2158. This changes the amino acid from a glutamic acid to a stop codon within coding exon 9. This mutation has been identified in multiple individuals with a personal and/or family history of breast and/or ovarian cancer (Tworek H et al. Cancer Genet. Cytogenet. 1999 Jul;112:105-18; Laitman Y et al. Breast Cancer Res. Treat. 2011 Jun;127:489-95; El Saghir NS et al. Oncologist. 2015 Apr;20:357-64). 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. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000031034 | SCV000325272 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000585721 | SCV000693515 | pathogenic | not provided | 2020-01-01 | criteria provided, single submitter | clinical testing | This variant is a single amino acid change from Glutamic Acid to a Termination codon at amino acid residue 720 of the BRCA1 gene. It is expected to result in a truncated, non-functional protein. Truncating variants in the BRCA1 gene are known to be pathogenic. The mutation database ClinVar contains entries for this variant (Variation ID: 37453). |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000585721 | SCV000887637 | pathogenic | not provided | 2017-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001386504 | SCV001586758 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-05-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu720*) 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 and/or ovarian cancer (PMID: 10686936, 25777348, 26187060, 29446198). ClinVar contains an entry for this variant (Variation ID: 37453). For these reasons, this variant has been classified as Pathogenic. |
Sharing Clinical Reports Project |
RCV000031034 | SCV000053628 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2010-07-01 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000031034 | SCV000144315 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 1998-04-15 | no assertion criteria provided | clinical testing |