ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2341G>C (p.Glu781Gln)

dbSNP: rs757933953
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000773413 SCV000907107 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-04 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000773413 SCV003847742 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003319420 SCV004023362 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2023-08-07 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 781 of the BRCA1 protein (p.Glu781Gln). This variant is not present in population databases (gnomAD) nor in our local database . This variant has not been reported in the literature in individuals with BRCA1-related conditions.This variant reported in clinvar database (ID:628750) . In-silico predictions show benign computational verdict based on 12 benign predictions from FATHMM-XF_addAF, EIGEN,LRT, DEOGEN2,BLOSUM, PROVEAN, PrimateAI,EIGEN, FATHMM-MKL, LIST-S2, MVP, MutationAssessor and PolyPhen . This position is not well conserved (PhyloP=1.28) . Therefore, it has been classified as a Variant of Uncertain Significance.

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