ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1361del (p.Ser454fs)

dbSNP: rs398122632
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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) RCV000077066 SCV000299587 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 RCV002381394 SCV002698282 pathogenic Hereditary cancer-predisposing syndrome 2020-10-28 criteria provided, single submitter clinical testing The c.1361delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 1361, causing a translational frameshift with a predicted alternate stop codon (p.S454Ifs*21). This mutation has been reported in multiple individuals with a personal and/or family history of breast and/or ovarian cancer (Lin PH et al. Oncotarget, 2016 Feb;7:8310-20; Bhaskaran SP et al. Int J Cancer, 2019 08;145:962-973; Chao A et al. J Gynecol Oncol, 2020 May;31:e24). 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 (SCRP) RCV000077066 SCV000108863 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2008-12-02 no assertion criteria provided clinical testing

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