Read an HGVS Variant Name Step by Step
Break a simple HGVS expression into its interpretable parts.
Decode NM_007294.4(BRCA1):c.5266dup p.(Gln1756ProfsTer74) without pretending to classify it. HGVS reading: reference -> gene -> coordinate type -> position -> sequence change -> predicted protein effect. The common shortcut is to write 'BRCA mutation' and lose the transcript, position, and exact change that make the lookup reproducible. Reference NM_007294.4 is the transcript/reference sequence used for the description. The same biological variant can display differently across transcripts, so the reference is part of the identity. Gene context (BRCA1) tells you the gene context shown by the report. The gene name helps humans orient, but it is not enough by itself because a…
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