0f23d17640ca30e2c9ee456c7e15966cabd3bc57 max Mon Sep 7 23:32:24 2026 -0700 Position box: let a hyphen separate a range of codons, e.g. "BRCA1 100-200" A bare number after a gene symbol has always meant a codon, and "KAT6A 495-533" was already accepted -- it just landed on codon 495 and dropped the rest, the same silent truncation that the underscore form had. A hyphen now separates a range wherever the coordinates are protein: after a gene symbol with no prefix, and after an explicit p. with a symbol or a transcript accession. The hyphen stays out of c. and n. terms, where HGVS already uses it for an intron offset. KAT6A c.1483-1599 is still the single base 1599 nt before c.1483, not codons 1483 to 1599, and there are now regression tests pinning both readings so the two do not drift into each other. refs #38285 diff --git src/hg/lib/tests/input/hgvs/validTerms.txt src/hg/lib/tests/input/hgvs/validTerms.txt index 2c5954c3f80..a67a0295fcb 100644 --- src/hg/lib/tests/input/hgvs/validTerms.txt +++ src/hg/lib/tests/input/hgvs/validTerms.txt @@ -1,41 +1,52 @@ # A variant that is famously known as "MTHFR C677T" or "MTHFR 677C>T" -- but the 677 is incorrect (from an old sequence ~1995): NM_005957.4:c.665C>T # Same variant in LRG transcript, protein and genomic coords: LRG_726t1:c.665C>T LRG_726p1:p.Ala222Val LRG_726:g.14783C>T # These three are equivalent (although p. is less specific): NM_003002.3:c.276C>A NP_002993.1:p.Asp92Glu NP_002993.1:p.D92E # This is not HGVS but seems to be a commonly requested format and is easy to transform into the internal representation of HGVS: ALK G1494E # More gene symbol HGVS-ish RERE:Thr758Serfs GBA1:p.Leu29Alafs*18 H6PD Val320= MTHFR Pro101_Gly102insLeuTyrIleAspValThrTrpHisProAlaGlyAspPro YARS1 p.Val153_Val156del PLOD1 Glu532del PPT1 p.Gln91_Cys96delinsPhe PLOD1:p.532 # From a user via b0b: NM_198056.3:pAla735Val NM_198056.3:pArg1512Trp NM_003098.2:c.287G>C NM_007294.3:c.2231C>A NM_007294.3(BRCA1):c.2231C>A # Bare codon numbers and ranges of codon numbers, refs #38285 KAT6A p.495 KAT6A p.495_533 KAT6A p.Lys495_Ser533 NM_006766.5 p.495 NM_006766.5 p.495_533 ENST00000265713.8 p.495 ENST00000265713.8 p.495_533 KAT6A c.1483_1599 +KAT6A 495 +KAT6A 495_533 +# A hyphen is a range separator in protein coordinates only, refs #38285 +KAT6A 495-533 +KAT6A p.495-533 +NM_006766.5 p.495-533 +ENST00000265713.8 p.495-533 +# ...but in c. and n. terms a hyphen is still an intron offset, not a range: +# this one must stay a single base 1599 nt before c.1483, not codons 1483..1599 +KAT6A c.1483-1599 +KAT6A n.100-200