Submissions for variant NM_000059.3(BRCA2):c.992A>T (p.Lys331Ile) (rs80359253)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000045918	SCV000073931	uncertain significance	Hereditary breast and ovarian cancer syndrome	2015-10-16	criteria provided, single submitter	clinical testing	This sequence change replaces lysine with isoleucine at codon 331 of the BRCA2 protein (p.Lys331Ile). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and isoleucine. This variant is not present in population databases (ExAC no frequency) . This variant has been reported in individuals in the Breast Cancer Information Core database and has been reported in an individual affected with breast cancer (PMID: 10923033, 21769658). ClinVar contains an entry for this variant (Variation ID: 52920). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Breast Cancer Information Core (BIC) (BRCA2)	RCV000112870	SCV000145800	uncertain significance	Breast-ovarian cancer, familial 2	2004-02-20	no assertion criteria provided	clinical testing

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