ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3152C>T (p.Thr1051Ile)

dbSNP: rs397509039
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509897 SCV000608116 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-24 criteria provided, single submitter clinical testing The p.T1051I variant (also known as c.3152C>T), located in coding exon 9 of the BRCA1 gene, results from a C to T substitution at nucleotide position 3152. The threonine at codon 1051 is replaced by isoleucine, an amino acid with similar properties. This amino acid position is well 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 RCV000509897 SCV003847322 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).

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