ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5277+78G>A (rs80358107)

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Total submissions: 3
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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 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
Breast Cancer Information Core (BIC) (BRCA1) RCV000112595 SCV000145431 uncertain significance Breast-ovarian cancer, familial 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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