ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1555A>C (p.Lys519Gln) (rs397508882)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480207 SCV000564720 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1555A>C at the cDNA level, p.Lys519Gln (K519Q) at the protein level, and results in the change of a Lysine to a Glutamine (AAG>CAG). This variant was observed in at least one individual that underwent BRCA1 and BRCA2 testing (Coulet 2010). BRCA1 Lys519Gln 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 Glutamine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA1 Lys519Gln occurs at a position that is highly conserved in mammals and is located in a DNA-binding domain (Narod 2004). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRCA1 Lys519Gln is pathogenic or benign. We consider it to be a variant of uncertain significance.
Color RCV000775177 SCV000909376 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-31 criteria provided, single submitter clinical testing

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