ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6929C>A (p.Thr2310Asn) (rs276174886)

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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 RCV000563131 SCV000666091 uncertain significance Hereditary cancer-predisposing syndrome 2016-08-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113672 SCV000146970 uncertain significance Breast-ovarian cancer, familial 2 2010-09-18 no assertion criteria provided clinical testing
Color RCV000563131 SCV000683828 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000487181 SCV000566740 uncertain significance not provided 2015-05-28 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6929C>A at the cDNA level, p.Thr2310Asn (T2310N) at the protein level, and results in the change of a Threonine to an Asparagine (ACT>AAT). This variant, also published as BRCA2 7157C>A using alternate nomenclature, has been reported in at least one individual of Indian ethnicity with a personal and/or family history of breast or ovarian cancer (Thirthagiri 2008). BRCA2 Thr2310Asn 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 Asparagine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Thr2310Asn occurs at a position that is conserved in mammals and is not located in a known functional domain (Uniprot). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA2 Thr2310Asn is pathogenic or benign. We consider it to be a variant of uncertain significance.

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