ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2960dup (p.Ser988fs)

dbSNP: rs886040088
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Total submissions: 7
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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) RCV000257068 SCV000323544 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-10-18 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 RCV000257068 SCV000325508 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
Mendelics RCV000709479 SCV000839264 pathogenic Hereditary breast ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000709479 SCV000955490 pathogenic Hereditary breast ovarian cancer syndrome 2022-11-15 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 266323). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 27062684, 29446198). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser988Valfs*4) 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).
Mendelics RCV000257068 SCV001140567 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436092 SCV002750081 pathogenic Hereditary cancer-predisposing syndrome 2020-10-01 criteria provided, single submitter clinical testing The c.2960dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 2960, causing a translational frameshift with a predicted alternate stop codon (p.S988Vfs*4). In a study of 1854 high-risk breast/ovarian cancer families in Italy, this alteration was detected in 5 families (Azzollini J et al. Eur. J. Intern. Med., 2016 Jul;32:65-71). 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.
Baylor Genetics RCV000257068 SCV004211769 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2021-03-17 criteria provided, single submitter clinical testing

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