ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.339C>G (p.Asn113Lys) (rs587779367)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000074580 SCV000108665 uncertain significance not provided 2017-11-27 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.339C>G at the cDNA level, p.Asn113Lys (N113K) at the protein level, and results in the change of an Asparagine to a Lysine (AAC>AAG). Using alternate nomenclature, this variant would be defined as BRCA1 458C>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA1 Asn113Lys was not observed in large population cohorts (Lek 2016). Since Asparagine and Lysine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA1 Asn113Lys is located in the BRD7 binding domain (Harte 2010). In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA1 Asn113Lys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000564284 SCV000665839 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

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