Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077125 | SCV000299899 | 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 |
RCV000077125 | SCV000325585 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000483228 | SCV000566135 | pathogenic | not provided | 2020-06-23 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Observed in individuals with a personal or family history consistent with pathogenic variants in this gene (Casadei 2001, Azzolini 2016); Not observed in large population cohorts (Lek 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Also known as c.3372dupA; This variant is associated with the following publications: (PMID: 10660329, 27062684, 11556835) |
Labcorp Genetics |
RCV000496900 | SCV002172981 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-10-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54805). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 27062684). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg1085Lysfs*8) 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). |
Ambry Genetics | RCV004609302 | SCV005100944 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-03-20 | criteria provided, single submitter | clinical testing | The c.3253dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 3253, causing a translational frameshift with a predicted alternate stop codon (p.R1085Kfs*8). This alteration has been reported in multiple individuals with personal and/or family history consistent with breast and/or ovarian carcinoma (HBOC) syndrome (De Benedetti VM et al. Hum. Mutat.,1998;12:215; Azzollini J et al. Eur. J. Intern. Med., 2016 Jul;32:65-71; Rebbeck TR et al. Hum. Mutat., 2018 May;39:593-620). 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. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation. |
Sharing Clinical Reports Project |
RCV000077125 | SCV000108922 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2011-08-16 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077125 | SCV000144685 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000496900 | SCV000587288 | pathogenic | Hereditary breast ovarian cancer syndrome | 2014-01-31 | no assertion criteria provided | research |