<div dir="ltr">Hello,<div><br></div><div>For the variant NC_000002.11:g.<wbr>31754395C>T, VEP GRCh37 gives HGVSc of <a href="http://grch37.rest.ensembl.org/vep/human/hgvs/NC_000002.11:g.31754395C%3ET?content-type=application/json&refseq=1&hgvs=1" target="_blank">NM_000348.3:c.679G>A</a> (<wbr>rs9332964).</div><div><br></div><div>By searching dbSNP, we can see that GRCh38 HGVS of <span style="color:rgb(34,34,34);font-family:arial,sans-serif;font-size:small;font-style:normal;font-variant-ligatures:normal;font-variant-caps:normal;font-weight:400;letter-spacing:normal;text-align:start;text-indent:0px;text-transform:none;white-space:normal;word-spacing:0px;background-color:rgb(255,255,255);text-decoration-style:initial;text-decoration-color:initial;float:none;display:inline">rs9332964 is NC_000002.12:g.31529325C>T and VEP GRCh38 gives HGVSc of <a href="http://rest.ensembl.org/vep/human/hgvs/NC_000002.12:g.31529325C%3ET?content-type=application/json&refseq=1&hgvs=1" target="_blank">NM_000348.3:c.680G>A</a>.</span></div><div><br></div><div>Searching ClinVar, NM_000348.3:c.680G>A gives result that correspond to <span style="color:rgb(34,34,34);font-family:arial,sans-serif;font-size:small;font-style:normal;font-variant-ligatures:normal;font-variant-caps:normal;font-weight:400;letter-spacing:normal;text-align:start;text-indent:0px;text-transform:none;white-space:normal;word-spacing:0px;background-color:rgb(255,255,255);text-decoration-style:initial;text-decoration-color:initial;float:none;display:inline">NC_000002.11:g.</span><wbr style="color:rgb(34,34,34);font-family:arial,sans-serif;font-size:small;font-style:normal;font-variant-ligatures:normal;font-variant-caps:normal;font-weight:400;letter-spacing:normal;text-align:start;text-indent:0px;text-transform:none;white-space:normal;word-spacing:0px;background-color:rgb(255,255,255);text-decoration-style:initial;text-decoration-color:initial"><span style="color:rgb(34,34,34);font-family:arial,sans-serif;font-size:small;font-style:normal;font-variant-ligatures:normal;font-variant-caps:normal;font-weight:400;letter-spacing:normal;text-align:start;text-indent:0px;text-transform:none;white-space:normal;word-spacing:0px;background-color:rgb(255,255,255);text-decoration-style:initial;text-decoration-color:initial;float:none;display:inline">31754395C>T while NM_000348.3:c.679G>A doesn't.</span></div><div><span style="color:rgb(34,34,34);font-family:arial,sans-serif;font-size:small;font-style:normal;font-variant-ligatures:normal;font-variant-caps:normal;font-weight:400;letter-spacing:normal;text-align:start;text-indent:0px;text-transform:none;white-space:normal;word-spacing:0px;background-color:rgb(255,255,255);text-decoration-style:initial;text-decoration-color:initial;float:none;display:inline"><br></span></div><div><span style="color:rgb(34,34,34);font-family:arial,sans-serif;font-size:small;font-style:normal;font-variant-ligatures:normal;font-variant-caps:normal;font-weight:400;letter-spacing:normal;text-align:start;text-indent:0px;text-transform:none;white-space:normal;word-spacing:0px;background-color:rgb(255,255,255);text-decoration-style:initial;text-decoration-color:initial;float:none;display:inline">Querying <span style="color:rgb(34,34,34);font-family:arial,sans-serif;font-size:small;font-style:normal;font-variant-ligatures:normal;font-variant-caps:normal;font-weight:400;letter-spacing:normal;text-align:start;text-indent:0px;text-transform:none;white-space:normal;word-spacing:0px;background-color:rgb(255,255,255);text-decoration-style:initial;text-decoration-color:initial;float:none;display:inline">NM_000348.3:c.679G>A in</span> <a href="https://mutalyzer.nl/name-checker?description=NM_000348.3%3Ac.679G%3EA">Mutalyzer Name Checker</a>, an error is shown that the reference base should be C instead of G. This make me wonder if the HGVSc from VEP GRCH37 is incorrect.</span></div><div><br clear="all"><div><div class="gmail-m_-682369354622616030gmail_signature"><div dir="ltr"><div><div dir="ltr"><div><div dir="ltr"><span>Regards,<br>Wallace Ko</span></div></div></div></div></div></div></div>
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