ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8045G>T (p.Ser2682Ile)

dbSNP: rs375053331
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838367 SCV001236846 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001139649 SCV001299823 uncertain significance Familial hypobetalipoproteinemia 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001139650 SCV001299824 uncertain significance Hypercholesterolemia, autosomal dominant, type B 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
New York Genome Center RCV001838367 SCV002764332 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-08-13 criteria provided, single submitter clinical testing The c.8045G>T, p.Ser2682Ile variant identified in the APOB gene has not been reported in the literature in individuals with APOB-associated disorders. This variant has seven heterozygous individuals in the gnomAD(v3.1.1) database, suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms do not agree on the effect of this variant, as it is predicted both damaging and benign to the function of thecanonical transcript. Given the lack of compelling evidence for its pathogenicity, the c.8045G>T, p.Ser2682Ile variant identified in the APOB gene is reported as a Variant of Uncertain Significance.
Ambry Genetics RCV004031151 SCV003570136 uncertain significance Cardiovascular phenotype 2021-08-10 criteria provided, single submitter clinical testing The c.8045G>T (p.S2682I) alteration is located in exon 26 (coding exon 26) of the APOB gene. This alteration results from a G to T substitution at nucleotide position 8045, causing the serine (S) at amino acid position 2682 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003329376 SCV004036258 uncertain significance not provided 2023-03-21 criteria provided, single submitter clinical testing Identified in individuals with familial hyperlipidemia or combined hyperlipidemia in published literature, although detailed clinical information and segregation data was not available (Gill et al., 2021; Sustar et al., 2022); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35913489, 33303402)

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