ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr) (rs12713540)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229662 SCV000284756 likely benign not provided 2019-02-25 criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000256297 SCV000322858 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 0/190 non-FH alleles
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000256297 SCV000588456 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000256297 SCV000687193 uncertain significance Familial hypercholesterolemia 1 2017-07-10 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Ser3774Thr in the mature protein) is a missense variant located in the beta 2 domain of the APOB protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has the variant been reported in individuals affected with FH in the literature. This variant has been identified in 323/277014 chromosomes (238/126528 European chromosomes) with 1 homozygote in the general population by the Genome Aggregation Database (gnomAD). Although this variant is fairly common in the population (0.12%), evidence is insufficient to rule out its pathogenicity conclusively.
GeneDx RCV000603743 SCV000725343 likely benign not specified 2018-02-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Iberoamerican FH Network RCV000256297 SCV000748109 uncertain significance Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Robarts Research Institute,Western University RCV000256297 SCV000782795 uncertain significance Familial hypercholesterolemia 1 2018-01-02 criteria provided, single submitter clinical testing
Color RCV000776066 SCV000910753 likely benign Familial hypercholesterolemia 2018-06-20 criteria provided, single submitter clinical testing Likely Benign based on current evidence: This missense variant (also known as p.Ser3774Thr in the mature protein) is located in the beta 2 domain of the APOB protein. Computational prediction tools and conservation analyses suggest that this variant may not impact the protein function. Computational splicing tools suggest that this variant may not impact the RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in an individual affected with hypercholesterolemia (PMID: 26020417). This variant is common in the general population has been identified in 323/277014 chromosomes (0.12%) by the Genome Aggregation Database (gnomAD). This variant occurs in 0.19% of the Latino and non-Finnish European populations. This variant allele frequency is greater than expected for the disorder based on prevalence, penetrance, and genetic heterogeneity. Based on available evidence, this variant is classified as Likely Benign.

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