Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Evidence- |
RCV000112013 | SCV000299892 | 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 | RCV001019039 | SCV001180346 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-06-29 | criteria provided, single submitter | clinical testing | The c.3181delA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3181, causing a translational frameshift with a predicted alternate stop codon (p.I1061*). This alteration has been identified in Chinese and Thai patients with breast and/or ovarian cancer (Patmasiriwat P et al. Hum. Mutat., 2002 Sep;20:230; Shi T et al. Int. J. Cancer, 2017 05;140:2051-2059; Bhaskaran SP et al. Int. J. Cancer, 2019 08;145:962-973; Manchana T et al. Gynecol Oncol Rep, 2019 Aug;29:102-105). This alteration is also described in the literature as 3300delA. 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. |
| Color Diagnostics, |
RCV001019039 | SCV001354374 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-10-17 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 10 of the BRCA1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been identified in Chinese and Thai individuals with breast and/or ovarian cancer (PMID: 12203997, 26187060, 30702160, 31467961). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
| Invitae | RCV001381236 | SCV001579547 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile1061*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is also known as c.3300delA. ClinVar contains an entry for this variant (Variation ID: 54792). For these reasons, this variant has been classified as Pathogenic. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003476952 | SCV004219343 | pathogenic | not provided | 2022-10-11 | criteria provided, single submitter | clinical testing | This nonsense variant causes the premature termination of BRCA1 protein synthesis. In the published literature, the variant has been reported in individuals with breast (PMIDs: 30702160 (2019) and 33471991 (2021)) and/or ovarian cancer (PMIDs: 12203997 (2002), 28176296 (2017), 30702160 (2019), and 31815095 (2019)). It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic. |
| Breast Cancer Information Core |
RCV000112013 | SCV000144655 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-06-27 | no assertion criteria provided | clinical testing |