ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2561A>G (p.Asn854Ser) (rs80358520)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219656 SCV000277149 uncertain significance Hereditary cancer-predisposing syndrome 2017-12-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Breast Cancer Information Core (BIC) (BRCA2) RCV000113061 SCV000146069 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing
Color RCV000219656 SCV000911823 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-11 criteria provided, single submitter clinical testing
Counsyl RCV000113061 SCV000785975 uncertain significance Breast-ovarian cancer, familial 2 2018-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000766391 SCV000567001 uncertain significance not provided 2018-08-22 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.2561A>G at the cDNA level, p.Asn854Ser (N854S) 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 2789A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Asn854Ser was not observed at a significant allele frequency in large population cohorts (Lek 2016). Since Asparagine and Serine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Asn854Ser is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available information, it is unclear whether BRCA2 Asn854Ser is pathogenic or benign. We consider it to be a variant of uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000478152 SCV000600516 uncertain significance not specified 2016-10-28 criteria provided, single submitter clinical testing

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