ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3400G>A (p.Glu1134Lys) (rs80357018)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000583019 SCV000688433 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588879 SCV000699028 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.3400G>A (p.Glu1134Lys) variant causes a missense change involving the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPsandGO not available). The variant of interest has not been found in a large, broad control population, ExAC in 121178 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS).
Invitae RCV000806646 SCV000946656 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-05-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1134 of the BRCA1 protein (p.Glu1134Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 491061). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV000583019 SCV001181656 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-05 criteria provided, single submitter clinical testing Insufficient evidence

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