ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1551del (p.Phe517fs)

dbSNP: rs80357630
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Total submissions: 5
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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) RCV000111645 SCV000299619 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.
Invitae RCV000047520 SCV000075533 pathogenic Hereditary breast ovarian cancer syndrome 2021-08-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe517Leufs*15) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in a family affected with breast cancer (PMID: 22762150). ClinVar contains an entry for this variant (Variation ID: 54289). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111645 SCV000325098 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2015-10-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003894894 SCV004708818 pathogenic BRCA1-related condition 2023-11-18 criteria provided, single submitter clinical testing The BRCA1 c.1551delT variant is predicted to result in a frameshift and premature protein termination (p.Phe517Leufs*15). This variant was reported in an individual from a breast cancer registry, although no clinical information was provided (Supplement, Lecarpentier et al. 2012. PubMed ID: 22762150). It has also been reported in an individual with Merkel cell carcinoma (Table 2, Gaubert et al. 2023. PubMed ID: 36754117). This variant has not been reported in a large population database, indicating this variant is rare. It is interpreted as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/54289/). Frameshift variants in BRCA1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000111645 SCV000144129 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 no assertion criteria provided clinical testing

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