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 2024-01-23 criteria provided, single submitter clinical testing The c.2657A>G (p.N886S) alteration is located in exon 18 (coding exon 18) of the APOB gene. This alteration results from a A to G substitution at nucleotide position 2657, causing the asparagine (N) at amino acid position 886 to be replaced by a serine (S). Based on insufficient or conflicting evidence, 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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