Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000111814 | SCV000299736 | 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. |
Invitae | RCV001380382 | SCV001578429 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-04-23 | 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: 54519). This variant is also known as 2394C>T. This premature translational stop signal has been observed in individual(s) with hereditary breast and/or ovarian cancer and early onset breast cancer (PMID: 22752604, 26848529). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Gln759*) 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 | RCV002444510 | SCV002732124 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-04 | criteria provided, single submitter | clinical testing | The p.Q759* pathogenic mutation (also known as c.2275C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 2275. This changes the amino acid from a glutamine to a stop codon within coding exon 9. This alteration has been reported in individuals of Asian descent with breast cancer (Juwle A et al. Med Oncol, 2012 Dec;29:3272-81; Bhaskaran SP et al. Int J Cancer, 2019 08;145:962-973. 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 |
RCV000111814 | SCV000144364 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2004-02-20 | no assertion criteria provided | clinical testing |