Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000112393 | SCV000300157 | 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. |
Department of Medical Genetics, |
RCV000112393 | SCV000564331 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000496283 | SCV001584608 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-08-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 55278). This variant is also known as 4864delA. This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 17574839). This variant is present in population databases (rs80357907, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asp1582Alafs*19) 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 | RCV003338399 | SCV004058422 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-12 | criteria provided, single submitter | clinical testing | The c.4745delA pathogenic mutation, located in coding exon 14 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 4745, causing a translational frameshift with a predicted alternate stop codon (p.D1582Afs*19). In one study, this alteration was observed in 42 individuals from 6 Norwegian families undergoing testing given a personal and/or family history of HBOC-related cancers (Møller P et al. Eur J Cancer, 2007 Jul;43:1713-7). Of note, this alteration is also designated as 4864delA in the published literature. 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 |
RCV000112393 | SCV000145171 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 1999-06-21 | no assertion criteria provided | clinical testing | |
Research Molecular Genetics Laboratory, |
RCV000496283 | SCV000587426 | pathogenic | Hereditary breast ovarian cancer syndrome | 2014-01-31 | no assertion criteria provided | research | |
BRCAlab, |
RCV000112393 | SCV002588817 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-08-26 | no assertion criteria provided | clinical testing |