ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5442_5444delinsTAA (p.Thr1815Asn) (rs1064794470)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485762 SCV000569253 uncertain significance not provided 2016-01-25 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.5442_5444delGACinsTAA at the cDNA level and p.Thr1815Asn (T1815N) at the protein level. The normal sequence, with the bases that are deleted in braces and inserted in brackets, is TTGT[GAC][TAA]TAGC. This in frame deletion and insertion, also denoted c.5670_5672delGACinsTAA using alternate nomenclature, occurs on the same allele (in cis) and results in the missense change of a Threonine for an Asparagine (ACT>AAT). Neither BRCA2 c.5442_5444delGACinsTAA nor BRCA2 Thr1815Asn (by this or an alternate nomenclature) has to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since Threonine and Asparagine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Thr1815Asn occurs at a position that is not conserved and is not located in a known functional 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 Thr1815Asn is pathogenic or benign. We consider it to be a variant of uncertain significance.

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