ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)

gnomAD frequency: 0.00016  dbSNP: rs142756262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001837992 SCV000659305 likely benign Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377194 SCV002685509 uncertain significance Cardiovascular phenotype 2023-06-21 criteria provided, single submitter clinical testing The p.N2961S variant (also known as c.8882A>G), located in coding exon 26 of the APOB gene, results from an A to G substitution at nucleotide position 8882. The asparagine at codon 2961 is replaced by serine, an amino acid with highly similar properties. This alteration has been noted in hypercholesterolemia cohorts and has been reported in combination with other cardiac-related genes (Beaudoin M et al. Circ Cardiovasc Genet, 2012 Oct;5:547-54; Sánchez-Hernández RM et al. J Clin Lipidol, 2019 May;13:618-626; Sustar U et al. Genet Med, 2022 Oct;24:2103-2111). This amino acid position is not well conserved in available vertebrate species, and serine is the reference amino acid in other 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.
New York Genome Center RCV001837992 SCV002764300 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-06-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001837992 SCV002797701 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2021-09-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139868 SCV003826859 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing

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