ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1146A>T (p.Lys382Asn) (rs431825280)

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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 RCV000130529 SCV000185398 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000486000 SCV000564762 uncertain significance not provided 2016-11-28 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1146A>T at the cDNA level, p.Lys382Asn (K382N) at the protein level, and results in the change of a Lysine to an Asparagine (AAA>AAT). This variant, also reported as BRCA2 1374A>T using alternate nomenclature, was observed in at least one individual with male breast cancer (Falchetti 2008). BRCA2 Lys382Asn 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 Lysine and Asparagine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA2 Lys382Asn occurs at a position that is not conserved and is not located in a known functional domain (Cole 2011, Roy 2012). 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 Lys382Asn is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000130529 SCV000908932 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-26 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082882 SCV000114956 uncertain significance Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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