Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000031139 | SCV000300052 | 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 |
RCV000031139 | SCV000325808 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001852618 | SCV002153067 | pathogenic | Hereditary breast ovarian cancer syndrome | 2022-02-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1331*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 37558). This premature translational stop signal has been observed in individual(s) with breast cancer and/or ovarian cancer (PMID: 22798144, 29446198). This variant is not present in population databases (gnomAD no frequency). |
Ambry Genetics | RCV002354176 | SCV002622481 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-05 | criteria provided, single submitter | clinical testing | The p.Q1331* pathogenic mutation (also known as c.3991C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3991. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This alteration was identified in multiple individuals with breast and/or ovarian cancer (Kim H et al. Breast Cancer Res Treat, 2012 Aug;134:1315-26; Choi MC et al. Int J Gynecol Cancer, 2018 02;28:308-315; Kwon BS et al. Cancer Res Treat, 2019 Jul;51:941-950; Ryu JM et al. Breast Cancer Res Treat, 2019 Jan;173:385-3950; Shin HC et al. Cancer Res Treat, 2020 Jul;52:697-713). This alteration was also identified in a large, worldwide study of BRCA1/2 mutation positive families (Rebbeck TR et al. Hum Mutat, 2018 05;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. As such, this alteration is interpreted as a disease-causing mutation. |
Sharing Clinical Reports Project |
RCV000031139 | SCV000053738 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2011-09-20 | no assertion criteria provided | clinical testing |