ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2303C>T (p.Thr768Ile) (rs55824746)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218187 SCV000274618 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
GeneDx RCV000214463 SCV000279907 uncertain significance not provided 2017-09-01 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.2303C>T at the cDNA level, p.Thr768Ile (T768I) 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 2531C>T. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Thr768Ile was not observed in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Threonine and Isoleucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Thr768Ile occurs at a position that is not conserved 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 evidence, it is unclear whether BRCA2 Thr768Ile is pathogenic or benign. We consider it to be a variant of uncertain significance.
Counsyl RCV000113030 SCV000785864 uncertain significance Breast-ovarian cancer, familial 2 2017-12-27 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113030 SCV000146026 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing

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