ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.319T>A (p.Phe107Ile)

dbSNP: rs878854944
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231540 SCV000289773 uncertain significance Hereditary breast ovarian cancer syndrome 2016-08-09 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with isoleucine at codon 107 of the BRCA1 protein (p.Phe107Ile). The phenylalanine residue is moderately conserved and there is a small physicochemical difference between phenylalanine and isoleucine. In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 240788).

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