ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1061A>T (p.Asn354Ile)

dbSNP: rs1555592577
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553065 SCV000635775 uncertain significance Hereditary breast ovarian cancer syndrome 2019-03-04 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 462547). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with isoleucine at codon 354 of the BRCA1 protein (p.Asn354Ile). The asparagine residue is moderately conserved and there is a large physicochemical difference between asparagine and isoleucine.
Ambry Genetics RCV001009817 SCV001169931 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-17 criteria provided, single submitter clinical testing The p.N354I variant (also known as c.1061A>T), located in coding exon 9 of the BRCA1 gene, results from an A to T substitution at nucleotide position 1061. The asparagine at codon 354 is replaced by isoleucine, an amino acid with dissimilar properties. This amino acid position is not well-conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. 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 RCV001009817 SCV003846192 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).
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003226321 SCV003923024 uncertain significance not specified 2023-03-11 criteria provided, single submitter clinical testing

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