ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr) (rs80358437)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000043814 SCV000071827 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-11-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 495 of the BRCA2 protein (p.Ala495Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals with breast cancer (PMID: 16847550, 24884479, 16760289). The evidence in this report is insufficient to determine its role in disease. ClinVar contains an entry for this variant (Variation ID: 51131). 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 threonine amino acid residue is 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 and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000130135 SCV000184968 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-19 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (benign)
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center RCV000414054 SCV000492492 uncertain significance Neoplasm of the breast criteria provided, single submitter research
Mendelics RCV000043814 SCV000838756 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000130135 SCV000908938 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-08 criteria provided, single submitter clinical testing
Mendelics RCV000989001 SCV001138999 uncertain significance Breast-ovarian cancer, familial 2 2019-05-28 criteria provided, single submitter clinical testing

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