ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1343G>A (p.Arg448His) (rs80358423)

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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 RCV000130010 SCV000184835 likely benign Hereditary cancer-predisposing syndrome 2018-02-28 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
Breast Cancer Information Core (BIC) (BRCA2) RCV000112910 SCV000145856 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000130010 SCV000911449 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-09 criteria provided, single submitter clinical testing
Counsyl RCV000112910 SCV000785485 uncertain significance Breast-ovarian cancer, familial 2 2017-08-18 criteria provided, single submitter clinical testing
GeneDx RCV000587298 SCV000569844 uncertain significance not provided 2016-04-03 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1343G>A at the cDNA level, p.Arg448His (R448H) at the protein level, and results in the change of an Arginine to a Histidine (CGT>CAT). This variant, previously published as BRCA2 1571G>A, was identified in at least one individual with a personal and family history of breast cancer (Claes 2004). BRCA2 Arg448His 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 Arginine and Histidine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Arg448His occurs at a position that is not conserved and is not located in a known functional domain (Claes 2004). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether BRCA2 Arg448His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Integrated Genetics/Laboratory Corporation of America RCV000587298 SCV000694533 uncertain significance not provided 2016-03-21 criteria provided, single submitter clinical testing

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