ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.890T>A (p.Met297Lys)

dbSNP: rs80356924
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000111493 SCV000488197 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2016-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570460 SCV000661004 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-26 criteria provided, single submitter clinical testing The p.M297K variant (also known as c.890T>A), located in coding exon 9 of the BRCA1 gene, results from a T to A substitution at nucleotide position 890. The methionine at codon 297 is replaced by lysine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000570460 SCV001356330 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-20 criteria provided, single submitter clinical testing
Invitae RCV001312407 SCV001502862 uncertain significance Hereditary breast ovarian cancer syndrome 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 297 of the BRCA1 protein (p.Met297Lys). This variant is present in population databases (rs80356924, gnomAD 0.0009%). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 27062684). ClinVar contains an entry for this variant (Variation ID: 55742). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
University of Washington Department of Laboratory Medicine, University of Washington RCV000570460 SCV003847868 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).
Breast Cancer Information Core (BIC) (BRCA1) RCV000111493 SCV000143935 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2004-11-25 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000111493 SCV000297627 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2009-04-13 no assertion criteria provided clinical testing

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