ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.655G>A (p.Asp219Asn) (rs273902779)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130801 SCV000185697 likely benign Hereditary cancer-predisposing syndrome 2016-11-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
Counsyl RCV000112756 SCV000488162 uncertain significance Breast-ovarian cancer, familial 1 2016-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000482679 SCV000571058 uncertain significance not provided 2016-07-18 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.655G>A at the cDNA level, p.Asp219Asn (D219N) at the protein level, and results in the change of an Aspartic Acid to an Asparagine (GAT>AAT). Using alternate nomenclature, this variant would be defined as BRCA1 774G>A. This variant has been reported in an individual with a Lynch syndrome-associated tumor and/or colon polyps (Yurgelun 2015). BRCA1 Asp219Asn 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 Aspartic Acid and Asparagine differ in some properties, this is considered a semi-conservative amino acid substitution. BRCA1 Asp219Asn occurs at a position that is not conserved and is located in a region known to interact with BRD7 and MB2 (Wang 1998, Harte 2010). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA1 Asp219Asn is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000130801 SCV000909403 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-24 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112756 SCV000145646 uncertain significance Breast-ovarian cancer, familial 1 2010-12-17 no assertion criteria provided clinical testing

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