ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1793C>T (p.Thr598Ile) (rs80358462)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000758865 SCV000566241 uncertain significance not provided 2015-04-09 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1793C>T at the cDNA level, p.Thr598Ile (T598I) at the protein level, and results in the change of a Threonine to an Isoleucine (ACA>ATA). Using alternate nomenclature, this variant would be defined as BRCA2 2021C>T. This variant has been observed in at least one unselected breast cancer case (Fackenthal 2012). BRCA2 Thr598Ile 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 Thr598Ile occurs at a position that is not 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 Thr598Ile is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000509597 SCV000608232 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence
Color RCV000509597 SCV000688724 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758865 SCV000887760 uncertain significance not provided 2018-01-04 criteria provided, single submitter clinical testing
Mendelics RCV000112971 SCV001139011 uncertain significance Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112971 SCV000145937 uncertain significance Breast-ovarian cancer, familial 2 2003-12-23 no assertion criteria provided clinical testing

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