ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3020C>G (p.Ser1007Ter)

dbSNP: rs80357168
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Total submissions: 4
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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) RCV000111983 SCV000299873 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.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111983 SCV000325531 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433544 SCV002753854 pathogenic Hereditary cancer-predisposing syndrome 2019-12-31 criteria provided, single submitter clinical testing The p.S1007* pathogenic mutation (also known as c.3020C>G), located in coding exon 9 of the BRCA1 gene, results from a C to G substitution at nucleotide position 3020. This changes the amino acid from a serine to a stop codon within coding exon 9. This alteration has been identified in several hereditary breast and ovarian cancer (HBOC) families (Kroiss R et al. Hum. Mutat., 2005 Dec;26:583-9; Rebbeck TR et al. Hum. Mutat., 2018 05;39:593-620; Manchana T et al. World J Clin Oncol, 2019 Nov;10:358-368). 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.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111983 SCV000144611 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing

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