ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3508A>T (p.Ile1170Phe)

dbSNP: rs273899708
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513658 SCV003496248 uncertain significance Hereditary breast ovarian cancer syndrome 2022-05-29 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 54905). 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. 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. This missense change has been observed in individual(s) with hereditary breast and ovarian cancer (PMID: 26848529, 30702160, 31825140). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 1170 of the BRCA1 protein (p.Ile1170Phe).
University of Washington Department of Laboratory Medicine, University of Washington RCV003157367 SCV003851891 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) RCV000112106 SCV000144778 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2005-05-26 no assertion criteria provided clinical testing

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