ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3929C>T (p.Thr1310Ile) (rs730881528)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509663 SCV000608138 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000509663 SCV000688838 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000160071 SCV000210326 uncertain significance not provided 2014-04-21 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3929C>T at the cDNA level, p.Thr1310Ile (T1310I) at the protein level, and results in the change of a Threonine to an Isoleucine (ACT>ATT). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Thr1310Ile 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 Thr1310Ile occurs at a position that is moderately conserved across species and is not located in a known functional domain. 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 Thr1310Ile is pathogenic or benign. We consider it to be a variant of uncertain significance.

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