ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1322C>T (p.Thr441Ile) (rs1064793062)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483055 SCV000564764 uncertain significance not provided 2015-02-25 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1322C>T at the cDNA level, p.Thr441Ile (T441I) at the protein level, and results in the change of a Threonine to an Isoleucine (ACT>ATT). Using alternate nomenclature, this variant would be defined as BRCA2 1550C>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Thr441Ile was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Since Threonine and Isoleucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Thr441Ile occurs at a position that is not conserved across species and is not located in a known functional domain (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA2 Thr441Ile is pathogenic or benign. We consider it to be a variant of uncertain significance.

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