ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1514A>T (p.Lys505Ile)

dbSNP: rs879254266
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792368 SCV000931662 likely benign Hereditary breast ovarian cancer syndrome 2022-05-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392751 SCV002709811 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-20 criteria provided, single submitter clinical testing The p.K505I variant (also known as c.1514A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 1514. The lysine at codon 505 is replaced by isoleucine, an amino acid with dissimilar 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 RCV002392751 SCV003851242 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).
Sharing Clinical Reports Project (SCRP) RCV000238702 SCV000297469 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2012-12-20 no assertion criteria provided clinical testing

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