Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000077544 | SCV000299932 | 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 | RCV000220196 | SCV000278775 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-09-26 | criteria provided, single submitter | clinical testing | The c.3359_3360delTT pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of two nucleotides at nucleotide positions 3359 and 3360, causing a translational frameshift with a predicted alternate stop codon. This alteration has been identified in multiple families with hereditary breast and/or ovarian cancer, primarily of Spanish descent (Miramar MD, et al. Breast Cancer Res. Treat. 2008 Nov; 112(2):353-8; de Juan Jimenez I et al. Fam. Cancer 2013 Dec;12(4):767-77; Rebbeck TR et al. Hum. Mutat. 2018 05;39(5):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. As such, this alteration is interpreted as a disease-causing mutation. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000077544 | SCV000325631 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001389430 | SCV001590797 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-04-04 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with hereditary breast and ovarian cancer (PMID: 18176857, 22426013, 23479189). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 54856). This variant is also known as 3478_3479delTT. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val1120Glufs*12) 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). |
Sharing Clinical Reports Project |
RCV000077544 | SCV000109345 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2008-06-17 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077544 | SCV000144738 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing |