ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5729A>G (p.Asn1910Ser) (rs276174863)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044733 SCV000072746 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-05-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1910 of the BRCA2 protein (p.Asn1910Ser). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (rs276174863, ExAC no frequency). This variant has been reported in a 41 year old female diagnosed with invasive breast cancer in the Breast Cancer Information Core database (PMID: 10923033). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The serine amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. While it is absent from the population and reported in affected individuals, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000213160 SCV000276904 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-09 criteria provided, single submitter clinical testing
Mendelics RCV000044733 SCV000838820 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000113473 SCV001139124 uncertain significance Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113473 SCV000146682 uncertain significance Breast-ovarian cancer, familial 2 2010-12-04 no assertion criteria provided clinical testing

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