ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9262G>A (p.Ala3088Thr) (rs730881569)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160166 SCV000210501 uncertain significance not provided 2014-07-31 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9262G>A at the cDNA level, p.Ala3088Thr (A3088T) at the protein level, and results in the change of an Alanine to a Threonine (GCC>ACC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Ala3088Thr 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 Alanine and Threonine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Ala3088Thr occurs at a position that is moderately conserved across species and is located in DNA binding domain (Borg 2010). 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 Ala3088Thr is pathogenic or benign. We consider it to be a variant of uncertain significance.

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