ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.2657A>G (p.Asn886Ser)

gnomAD frequency: 0.00005  dbSNP: rs183398286
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001837774 SCV000284765 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002450670 SCV002739873 uncertain significance Cardiovascular phenotype 2023-02-02 criteria provided, single submitter clinical testing The p.N886S variant (also known as c.2657A>G), located in coding exon 18 of the APOB gene, results from an A to G substitution at nucleotide position 2657. The asparagine at codon 886 is replaced by serine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001837774 SCV002775815 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-10-25 criteria provided, single submitter clinical testing
New York Genome Center RCV001837774 SCV003925180 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-06-15 criteria provided, single submitter clinical testing The c.2657A>G p.(Asn886Ser) variant identified in the APOB gene is predicted to result in the substitution of an Asparagine for Serineat amino acid 886/4564 (exon 18/29). This variant is found with low frequency in population databases gnomAD, BRAVO-TOPMed Freeze 8, All of Us (allele frequency=1.1e-4) suggesting it is not a common benign variant in the populations represented in those databases. In silico algorithms do not predict a damaging effect to the function of the canonical protein (REVEL=0.153). This variant reported in ClinVar as a Variant of Uncertain Significance [VarID:237742] and to our current knowledge has not been reported in affected individuals in the literature. Given the lack of compelling evidence for its pathogenicity, the c.2657A>Gp.(Asn886Ser) variant identified in the APOB gene is reported as a Variant of Uncertain Significance.

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