ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9367A>G (p.Ser3123Gly) (rs80359208)

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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 RCV000165396 SCV000216123 uncertain significance Hereditary cancer-predisposing syndrome 2014-11-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Breast Cancer Information Core (BIC) (BRCA2) RCV000114097 SCV000147619 uncertain significance Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
GeneDx RCV000212290 SCV000210505 uncertain significance not provided 2014-07-22 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.9367A>G at the cDNA level, p.Ser3123Gly (S3123G) at the protein level, and results in the change of a Serine to a Glycine (AGC>GGC). Karchin et al. (2008) classified this variant as being of uncertain significance based on a combination of in silico analyses and published computational models. BRCA2 Ser3123Gly 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 Serine and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Ser3123Gly occurs at a position that is fully 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 Ser3123Gly is pathogenic or benign. We consider it to be a variant of uncertain significance.

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