ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.559G>A (p.Glu187Lys) (rs80358780)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167470 SCV000218326 uncertain significance Hereditary cancer-predisposing syndrome 2015-10-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Other data supporting pathogenic classification
Breast Cancer Information Core (BIC) (BRCA2) RCV000113802 SCV000147156 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
GeneDx RCV000212207 SCV000210247 uncertain significance not provided 2014-04-17 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.559G>A at the cDNA level, p.Glu187Lys (E187K) at the protein level, and results in the change of a Glutamic Acid to a Lysine (GAG>AAG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Glu187Lys 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 Glutamic Acid and Lysine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Glu187Lys occurs at a position that is highly conserved across species and is not located in a known functional domain. In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available information, it is unclear whether BRCA2 Glu187Lys is pathogenic or benign. We consider it to be a variant of uncertain significance.

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