<div dir="ltr">Hello,<div><br></div><div>I have a variant '<font face="monospace, monospace">2 31754395 . C T . . .</font>' annotated by VEP web service: <a href="http://grch37.ensembl.org/Homo_sapiens/Tools/VEP/Results?db=core;tl=5Xnr0Kx2ezfI8lj3-4292985">http://grch37.ensembl.org/Homo_sapiens/Tools/VEP/Results?db=core;tl=5Xnr0Kx2ezfI8lj3-4292985</a></div><div><br></div><div>The resulting HGVS notations are:</div><div><ul><li>HGVSc: NM_000348.3:c.679G>A<br></li><li>HGVSp: NP_000339.2:p.Arg227Gln<br></li></ul></div><div>Searching the HGVSp on ClinVar, a corresponding  result <a href="https://www.ncbi.nlm.nih.gov/clinvar/variation/3351">https://www.ncbi.nlm.nih.gov/clinvar/variation/3351</a> is found. However, the coding HGVS on ClinVar's web page is <span style="font-size:small;text-align:left;background-color:rgb(255,255,255);text-decoration-style:initial;text-decoration-color:initial;float:none;display:inline">NM_000348.3:c.</span><b style="font-size:small;text-align:left;text-decoration-style:initial;text-decoration-color:initial">680</b><span style="font-size:small;text-align:left;background-color:rgb(255,255,255);text-decoration-style:initial;text-decoration-color:initial;float:none;display:inline">G>A.</span></div><div><span style="font-size:small;text-align:left;background-color:rgb(255,255,255);text-decoration-style:initial;text-decoration-color:initial;float:none;display:inline"><br></span></div><div><span style="font-size:small;text-align:left;background-color:rgb(255,255,255);text-decoration-style:initial;text-decoration-color:initial;float:none;display:inline">Checking VEP's HGVSc on Mutalyzer's name checker (<a href="https://mutalyzer.nl/name-checker?description=NM_000348.3%3Ac.679G%3EA">https://mutalyzer.nl/name-checker?description=NM_000348.3%3Ac.679G%3EA</a>), an error shows that the reference base at c.679 is C instead of G.</span></div><div><br></div><div>I wonder if the HGVSc given by VEP is correct. Thank you.</div><div><br clear="all"><div><div class="gmail_signature"><div dir="ltr">Regards,<div>Wallace Ko</div></div></div></div>
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