ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.995T>A (p.Ile332Asn)

dbSNP: rs1555281682
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563072 SCV000661203 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-30 criteria provided, single submitter clinical testing The p.I332N variant (also known as c.995T>A), located in coding exon 9 of the BRCA2 gene, results from a T to A substitution at nucleotide position 995. The isoleucine at codon 332 is replaced by asparagine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. 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.
Color Diagnostics, LLC DBA Color Health RCV000563072 SCV000910093 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000814918 SCV000955356 uncertain significance Hereditary breast ovarian cancer syndrome 2022-01-18 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. 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 BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 479285). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with asparagine, which is neutral and polar, at codon 332 of the BRCA2 protein (p.Ile332Asn).
University of Washington Department of Laboratory Medicine, University of Washington RCV000563072 SCV003849760 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).
Myriad Genetics, Inc. RCV004592648 SCV005084484 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2024-05-14 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].

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