ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4837_4838delinsGCC (p.Ser1613fs) (rs730880287)

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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) RCV000157652 SCV000300167 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Counsyl RCV000157652 SCV000677804 pathogenic Breast-ovarian cancer, familial 1 2017-05-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759549 SCV000888932 pathogenic not provided 2017-08-26 criteria provided, single submitter clinical testing
Strand Center for Genomics and Personalized Medicine,Strand Life Sciences Pvt Ltd RCV000157652 SCV000195857 likely pathogenic Breast-ovarian cancer, familial 1 2014-06-11 no assertion criteria provided clinical testing The variant c.4837_4838delinsGCC is found heterozygously in a 37 year female suffering from breast cancer. The deletion causes a frameshift after the codon 1612 followed by a premature termination of the protein. The truncated protein lacks the C-terminal domain of BRCA1 resulting in loss of function of the protein. Another variant c.4837insG with a similar effect on protein (p.Ser1613fs) has been reported in a breast cancer patient from north India (PMID: 17018160). Many variations in BRCA1 resulting in truncated protein lacking the C-terminal domain have been reported as disease causing (PMID : 9799248).

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