Differences in HGVS notation

Question

[roalva1]

Hello,

I am trying to understand why these two variants are not the same:

• NM_153818.1:c.927_928insG: varso.me/L2FR
• NM_153818.1:c.926_927insG: varso.me/L22e

by HGVS notation and the 5'->3' arrange, I think they should be the same. Normally, Varsome would change the second to the first but it does not, and also the protein change is not the same, so I guess I am missing something.

Thanks!

Answer 1

[finswimmer]

Hello,

these variants are not the same.

The first one introduce a G between c.927 and c.928. The second a G between c.926 and c.927.

c.927 is a C in the reference. The alignment for the first variant looks like this:

GCACCCAACAGCCACGCCCTGCGGC - CACCTGTTCTGCTGGGAGTGCATCA
GCACCCAACAGCCACGCCCTGCGGC G CACCTGTTCTGCTGGGAGTGCATCA

Resulting in p.(His310Alafs*49)

For the second like this:

GGCACCCAACAGCCACGCCCTGCGG - CCACCTGTTCTGCTGGGAGTGCATC
GGCACCCAACAGCCACGCCCTGCGG G CCACCTGTTCTGCTGGGAGTGCATC

Resulting in p.(His310Profs*49)

mutalyzer is helpful for these kind of check :)

fin swimmer