ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5133del (p.Lys1711fs) (rs730880288)

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Total submissions: 2
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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) RCV000157653 SCV000300206 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd RCV000157653 SCV000195858 likely pathogenic Breast-ovarian cancer, familial 1 2014-02-19 no assertion criteria provided clinical testing The variant c.5133del is found heterozygously in a female which results in a frameshift variation after Lys1711 leading to premature truncation in the protein. The chromatin structure assay demonstrated that the 1707IAGGK1711 region is critical for the chromatin unfolding activity (PMID: 12674632). A variation p.Gly1710Ter has been reported to be associated with breast cancer in French patients (PMID: 15131401).

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