ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.164A>G (p.Asn55Ser) (rs80358450)

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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 RCV000129076 SCV000183779 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000212200 SCV000210432 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.164A>G at the cDNA level, p.Asn55Ser (N55S) at the protein level, and results in the change of an Asparagine to a Serine (AAC>AGC). Using alternate nomenclature, this variant would be defined as BRCA2 392A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Asn55Ser 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 Asparagine and Serine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Asn55Ser 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 information, it is unclear whether BRCA2 Asn55Ser is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212200 SCV001133686 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113209 SCV000146282 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing

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