PRKN HGVS, dbSNP, And ClinVar Variant Tables

HGVS And dbSNP Variant List

Table headers:

column	header
1	HGVS
2	dbSNP

PRKN transcript rows and dbSNP values:

visible HGVS / variant notation	visible dbSNP
NM_004562.3(PRKN):c.101_102del (p.Gln34fs)	rs55777503
NM_004562.3(PRKN):c.101del (p.Gln34fs)
NM_004562.3(PRKN):c.110C>T (p.Pro37Leu?)
NM_004562.3(PRKN):c.125G>C (p.Arg42Pro)	rs368134308
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asn?)	rs191486604
NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe)	rs397514694
NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg)
NM_004562.3(PRKN):c.1358G>A (p.Trp453Ter)	rs137853056
NM_004562.3(PRKN):c.155del (p.Asn52fs)	rs754809877
NM_004562.3(PRKN):c.167T>A (p.Val56Gln)	rs137853059
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)	rs746646126
NM_004562.3(PRKN):c.245C>A (p.Ala82Glu)	rs55774500
NM_004562.3(PRKN):c.337_376del (p.Pro113fs)
NM_004562.3(PRKN):c.483A>T (p.Lys161Asn?)	rs137853057
NM_004562.3(PRKN):c.560T>G (p.Leu187Ter)	rs1562485799
NM_004562.3(PRKN):c.618+7842_618+7934inv
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn?)	rs137853060
NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr)	rs137853058
NM_004562.3(PRKN):c.719C>G (p.Thr240Arg)	rs137853054
NM_004562.3(PRKN):c.719C>T (p.Thr240Met)	rs137853054
NM_004562.3(PRKN):c.743del (p.Val248fs)
NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr)	rs747427602
NM_004562.3(PRKN):c.804T>A (p.Cys268Ter)	rs377554392
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp?)	rs34424986
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg)	rs751037529
NM_004562.3(PRKN):c.931C>T (p.Gln311Ter)	rs137853055
NM_004562.3(PRKN):c.97C>T (p.Arg33Ter)
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)	rs147757966

Deletion/duplication rows at the top of the list:

NC_000006.12:g.(?162201111)(162201272?)del
NC_000006.12:g.(?162201111)(162262785?)del
NC_000006.12:g.(?162201121)(162201262?)del
NC_000006.12:g.(?162201121)(162262775?)del
NC_000006.12:g.(?162201121)(162443487?)del
NC_000006.12:g.(?162201131)(162443473?)del
NC_000006.12:g.(?162262505)(162262785?)del
NC_000006.12:g.(?162262505)(162443493?)del
NC_000006.12:g.(?162262515)(162262775?)del
NC_000006.12:g.(?162262515)(162443487?)del
NC_000006.12:g.(?162262525)(162275409?)dup
NM_004562.2(PRKN):c.172-? 871+?del
NM_004562.2(PRKN):c.413-? 534+?del
NM_004562.2(PRKN):c.735-? 871+?del
NM_004562.2(PRKN):c.8-? 171+?del
NM_004562.2(PRKN):c.872-? 1083+?del

Additional low-confidence labels at the transition into the next table:

PARK2. 1-BP DEL. 1072T
PARK2. 1-BP DEL. 202A
PARK2. 1-BP DEL. 255A
PARK2. DEL.
PARK2_EX5-6DEL
ClinVar, single nucleotide ... rs3975...

ClinVar-Style PRKN Variant Rows

Table headers:

Variation/Location
Gene(s)
Protein change
Condition(s)
Rs no
Clinical significance (Last reviewed)
Review status
Accession

Partial row transcription. Leftmost selector labels are clipped and omitted.

Variation/Location	Gene(s)	Protein change	Condition(s)	Rs no	Clinical significance (Last reviewed)	Review status	Accession
NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg); GRCh37: Chr6:161771208; GRCh38: Chr6:161350176	PRKN	C292R, C413R, C441R	not provided	NA	Pathogenic (Sep 9, 2019)	criteria provided, single submitter	VCV000963190
NM_004562.3(PRKN):c.1292G>T (p.Cys431Phe); GRCh37: Chr6:161771237; GRCh38: Chr6:161350205	PRKN	C431F, C403F, C282F	Parkinson disease 2	rs397514694	Pathogenic (Aug 1, 2000)	no assertion criteria provided	VCV000050354
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp); GRCh37: Chr6:161771240; GRCh38: Chr6:161350208	PRKN	G430D, G281D, G402D	Parkinson disease 2, not provided	rs191486604	Pathogenic/Likely pathogenic (Mar 18, 2019)	criteria provided, multiple submitters, no conflicts	VCV000356016
NM_004562.3(PRKN):c.931C>T (p.Gln311Ter); GRCh37: Chr6:161990389; GRCh38: Chr6:161569357	PRKN	Q311*, Q162*, Q283*	Parkinson disease 2	rs137853055	Pathogenic (Sep 1, 2005)	no assertion criteria provided	VCV000007037
NM_004562.3(PRKN):c.850G>C (p.Gly284Arg?)	PRKN	G284R	not provided	rs751037529	Pathogenic	criteria provided, single ...	VCV000409266

Uncertain Spans

• Page 88 of 94 is taken from the visible Word statusbar; earlier Parkin pages used a different page-count denominator.
• Top NC_000006.12 deletion/duplication rows are not normalized. The visible punctuation between coordinate ranges is ambiguous, and the second row is OCR-conflicted.
• The top list has a likely conflict at NM_004562.3(PRKN):c.1289G>A: the HGVS/dbSNP list appears to show p.Gly430Asn?, while the ClinVar table row shows p.Gly430Asp.
• p.Pro37Leu?, p.Lys161Asn?, p.Lys211Asn?, p.Arg275Trp?, and p.Gly284Arg? are uncertain readings from small text.
• PARK2. 1-BP DEL. 1072T, PARK2. 1-BP DEL. 202A, PARK2. 1-BP DEL. 255A, PARK2. DEL., and PARK2_EX5-6DEL are clipped row labels and should not be treated as canonical variant names without source check.
• The last ClinVar-style row for c.850G>C is only partially visible at the bottom of the photo.