ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3337G>A (p.Glu1113Lys)

dbSNP: rs1482364471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001020025 SCV001181448 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-02 criteria provided, single submitter clinical testing The p.E1113K variant (also known as c.3337G>A), located in coding exon 10 of the BRCA2 gene, results from a G to A substitution at nucleotide position 3337. The glutamic acid at codon 1113 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV001020025 SCV003851874 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV005056776 SCV005713789 likely benign Hereditary breast ovarian cancer syndrome 2024-02-27 criteria provided, single submitter clinical testing

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