ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5277+78G>A

gnomAD frequency: 0.00099  dbSNP: rs80358107
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112595 SCV001161516 benign Breast-ovarian cancer, familial, susceptibility to, 1 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 7.78E-06
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV002222163 SCV002025903 likely benign Hereditary breast ovarian cancer syndrome 2022-04-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505024 SCV002808601 likely benign Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S 2022-04-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000501985 SCV003917924 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing BRCA1: BS1
Breast Cancer Information Core (BIC) (BRCA1) RCV000112595 SCV000145431 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2000-08-09 no assertion criteria provided clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000501985 SCV000591604 likely benign not provided no assertion criteria provided clinical testing The BRCA1 c.5277+78G>A variant has not been reported in the literature nor previously identified by our laboratory. This is an intronic variant, which occurs outside the consensus splice site sequences, and is not found to impact on splicing using the prediction programs. It is listed in the dbSNP database from a clinical source with no information on the population frequency. Based on the information above, this variant is likely benign.

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