ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2170_2172delinsTCC (p.Pro724Ser)

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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 RCV002432726 SCV002731388 uncertain significance Hereditary cancer-predisposing syndrome 2021-05-04 criteria provided, single submitter clinical testing The c.2170_2172delCCTinsTCC variant (also known as p.P724S), located in coding exon 9 of the BRCA1 gene, results from an in-frame deletion of CCT and insertion of TCC at nucleotide positions 2170 to 2172. This results in the substitution of the proline residue for a serine residue at codon 724, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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 RCV002432726 SCV003848029 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).
GeneDx RCV004763411 SCV005372244 uncertain significance not provided 2023-07-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis is inconclusive as to whether the variant alters protein function. In the absence of functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge; Also known as 2289_2290delinsTCC; This variant is associated with the following publications: (PMID: 31911673, 15343273)

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