Submissions for variant NM_000059.3(BRCA2):c.9610A>G (p.Thr3204Ala) (rs80359231)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000045865	SCV000073878	uncertain significance	Hereditary breast and ovarian cancer syndrome	2018-09-27	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with alanine at codon 3204 of the BRCA2 protein (p.Thr3204Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (rs80359231, ExAC no frequency). This variant has been reported in at least one individual screened for BRCA1/2 variants due to a person and/or family history of disease (PMID: 21120943). ClinVar contains an entry for this variant (Variation ID: 52873). 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 alanine 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. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV000213913	SCV000277176	uncertain significance	Hereditary cancer-predisposing syndrome	2015-07-14	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000045865	SCV000592296	uncertain significance	Hereditary breast and ovarian cancer syndrome	2015-02-09	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000114133	SCV000147673	uncertain significance	Breast-ovarian cancer, familial 2	2003-12-23	no assertion criteria provided	clinical testing

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