ClinVar Miner

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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