Table 1 Exemplar variants demonstrating nomenclature discrepancies

Coding HGVS: variant type

Insertion

c.2339_2340insGGGCTCCCC

c.2331_2339dupGGGCTCCCC

c.2331_2339dupGGGCTCCCC

c.2331_2339dup

COSM12555^*

Insertion

-

c.2262_2263ins14

-

c.2262_2263insGGCATCTCAGCATC

-

c.2262_2263insGGCATCTCAGCATC

COSM5254274

Deletion

c.1200-1delG

c.1200delG

c.1200delG

c.1201delAinsGA

c.1200-1delG

PTV021, rs63186960

Deletion

c.1895 + 1_1895 + 4delGTGA

c.1895 + 5_1895 + 8delGTGA

c.1895 + 5_1895 + 8delGTGA

c.1895 + 9GTGAC > C

c.1895 + 5_1895 + 8delGTGA

PTV003, rs386834023

Duplication

-

c.422_423insA

c.428dupA

c.428dupA

-

c.428dup

COSM4719972

Indel

-

c.3141_3142GA > TT

c.3141_3142delGAinsTT

c.3141_3142delGAinsTT

-

c.3141_3142delinsTT

COSM4387531

Indel

c.68-5_68-3delinsTT

-

c.68-5_68-3delCTCinsTT

c.68-5_68-3delCTCinsTT

c.68-5_68-3delCTCinsTT

c.68-5_68-3delinsTT

rs397516362

SNV

c.1621A=

c.1621A>G

c.1621A>G

c.1621G=

c.1621G=

PTV099, rs2228006

Protein HGVS: consequence

Frameshift

p.Arg227Lysfs

-

p.Arg227fs

p.Arg227LysfsTer31

-

All are acceptable

rs80356649

Frameshift

-

p.P1176fs^*>46

p.Pro1176fs

p.Pro1176AlafsTer117

-

p.Pro1176fs or p.Pro1176AlafsTer117

COSM5196763

Frameshift

-

-

p.Glu238fs

p.Glu238ProfsTer9

p.Phe237_Glu238insPro

p.Glu238fs or p.Glu238ProfsTer9

PTV009

In-frame insertion

-

p.Pro780_Tyr781insGlySerPro

p.Pro780_Tyr781insGlySerPro

p.Gly778_Pro780dup

-

p.Gly778_Pro780dup

COSM12555¹

Synonymous

p.Arg317=

-

p.Arg317Arg

p.=

p.Arg317=

p.Arg317=

rs111033272

Synonymous

-

p.^*1143^*

p.Ter1143Ter

p.=

-

p.Ter1143=

COSM3558732

Stop gained

p.Gln100Ter

-

p.Gln100^*

p.Gln100Ter

-

All are acceptable

rs119103276

Extention

-

p.^*1133L

p.Ter1133Leuext^*?

p.Ter1133LeuextTer22

-

p.Ter1133LeuextTer22

COSM1569676

In-frame insertion

-

-

p.Arg309_Arg310insArgArg

p.Arg310_Arg311dup

p.Arg311_Lys312insArgArg

p.Arg310_Arg311dup

PTV082

In-frame insertion

-

p.T502_H505delTTGH

p.Thr502_His505del

p.Thr502_His505del

-

p.Thr502_His505del

COSM1163654

In-frame deletion

-

-

p.Ala1111_Ala1119del

p.Ala1111_Ala1119del

p.Ala1119_Gly1120insAlaAlaAlaAlaAlaAlaAlaAlaAla

p.Ala1111_Ala1119del

PTV021