ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3449C>G (p.Thr1150Ser) (rs730881524)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160064 SCV000210316 uncertain significance not provided 2014-09-09 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.3449C>G at the cDNA level, p.Thr1150Ser (T1150S) at the protein level, and results in the change of a Threonine to a Serine (ACT>AGT). This variant also referred to as c.3677C>G has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Thr1150Ser 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 Serine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Thr1150Ser occurs at a position that is poorly conserved across species while tolerating Serine in four species and is not located within 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 Thr1150Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.

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