ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.10955A>G (p.Asn3652Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003228672 SCV003925402 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-01-28 criteria provided, single submitter clinical testing The c.10955A>G (p.Asn3652Ser) variant identified in the APOB gene substitutes a well conserved Asparagine for Serine at amino acid 3652/4564 (exon 26/29). This variant is found with low frequency in gnomAD(v2.1.1) (2 heterozygotes, 0 homozygotes; allele frequency: 7.968e-6) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Damaging (SIFT; score:0.03) and Benign(REVEL; score:0.307) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Asn3652 residue is not within a mapped domain of APOB (UniProtKB:P04114). Given the lack of compelling evidence for its pathogenicity, the heterozygous c.10955A>G (p.Asn3652Ser) variant identified in the APOB gene is reported as a Variant of UncertainSignificance.

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