ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8963G>A (p.Ser2988Asn) (rs778052683)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000773156 SCV000906695 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-16 criteria provided, single submitter clinical testing
GeneDx RCV000478758 SCV000567539 uncertain significance not provided 2015-08-03 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8963G>A at the cDNA level, p.Ser2988Asn (S2988N) at the protein level, and results in the change of a Serine to an Asparagine (AGT>AAT). Using alternate nomenclature, this variant would be defined as BRCA2 9191G>A. This variant has been reported in at least one individual referred for clinical BRCA1/2 testing (Théry 2011). BRCA2 Ser2988Asn 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 Asparagine share similar properties, this is considered a conservative amino acid substitution. BRCA2 Ser2988Asn occurs at a position where amino acids with properties similar to Serine are tolerated across species and is located within the DNA binding domain (Borg 2010). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether BRCA2 Ser2988Asn is pathogenic or benign. We consider it to be a variant of uncertain significance.
Invitae RCV000531141 SCV000635707 likely benign Hereditary breast and ovarian cancer syndrome 2017-07-18 criteria provided, single submitter clinical testing

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