ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7331A>G (p.Asp2444Gly) (rs431825352)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166106 SCV000216873 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000082971 SCV000785001 uncertain significance Breast-ovarian cancer, familial 2 2017-03-07 criteria provided, single submitter clinical testing
GeneDx RCV000481679 SCV000566501 uncertain significance not provided 2015-05-06 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7331A>G at the cDNA level, p.Asp2444Gly (D2444G) at the protein level, and results in the change of an Aspartic Acid to a Glycine (GAT>GGT). Using alternate nomenclature, this variant would be defined as BRCA2 7559A>G. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. BRCA2 Asp2444Gly 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 Aspartic Acid and Glycine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. BRCA2 Asp2444Gly occurs at a position that is not conserved and is located in the region of interaction with FANCD2 (UniProt). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether BRCA2 Asp2444Gly is pathogenic or benign. We consider it to be a variant of uncertain significance.
Sharing Clinical Reports Project (SCRP) RCV000082971 SCV000115045 uncertain significance Breast-ovarian cancer, familial 2 2010-05-26 no assertion criteria provided clinical testing

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