ClinVar PRKN Variant Rows And Heterozygous PRKN Mutation Risk Notes

ClinVar-Style PRKN Pathogenic Variant Rows

Table headers:

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

Row transcription:

visible selector / no.	Variation/Location	Gene(s)	Protein change	Condition(s)	Rs no	Clinical significance (Last reviewed)	Review status	Accession
7050; 6.	NM_004562.3(PRKN):c.823C>T (p.Arg275Trp); GRCh37: Chr6:162206852; GRCh38: Chr6:161785820	PRKN	R275W, R126W, R247W	Young-onset Parkinson disease, Leprosy 2, Lung carcinoma, Parkinson disease 2, Neoplasm of ovary, Parkinson disease 2, not provided, See cases	rs34424986	Pathogenic (Oct 23, 2020)	criteria provided, multiple submitters, no conflicts	VCV000007050
805244; 7.	NM_004562.3(PRKN):c.804T>A (p.Cys268Ter); GRCh37: Chr6:162206871; GRCh38: Chr6:161785839	PRKN	C240*, C268*, C119*	not provided	rs377554392	Pathogenic (Nov 16, 2018)	criteria provided, single submitter	VCV000805244
645725; 8.	NM_004562.3(PRKN):c.758G>A (p.Cys253Tyr); GRCh37: Chr6:162206917; GRCh38: Chr6:161785885	PRKN	C253Y, C104Y, C225Y	not provided, Parkinson disease 2	rs747427602	Pathogenic (Dec 27, 2019)	criteria provided, multiple submitters, no conflicts	VCV000645725
7036; 9.	NM_004562.3(PRKN):c.719C>G (p.Thr240Arg); GRCh37: Chr6:162394349; GRCh38: Chr6:161973317	PRKN	T240R, T212R, T91R	Parkinson disease 2	rs137853054	Pathogenic (Sep 1, 2005)	no assertion criteria provided	VCV000007036
7046; 10.	NM_004562.3(PRKN):c.635G>A (p.Cys212Tyr); GRCh37: Chr6:162394433; GRCh38: Chr6:161973401	PRKN	C212Y, C184Y, C63Y	Parkinson disease 2, not provided	rs137853058	Pathogenic (Jan 2, 2020)	criteria provided, single submitter	VCV000007046
7051; 11.	NM_004562.3(PRKN):c.633A>T (p.Lys211Asn); GRCh37: Chr6:162394435; GRCh38: Chr6:161973403	PRKN	K211N, K62N, K183N	Parkinson disease 2	rs137853060	Pathogenic (Sep 1, 2005)	no assertion criteria provided	VCV000007051
582111; 12.	NM_004562.3(PRKN):c.560T>G (p.Leu187Ter); GRCh37: Chr6:162475181; GRCh38: Chr6:162054149	PRKN	L187*	not provided	rs1562485799	Pathogenic (May 1, 2019)	criteria provided, single submitter	VCV000582111
7043; row number visually clipped	NM_004562.3(PRKN):c.483A>T (p.Lys161Asn); GRCh37: Chr6:162622214; GRCh38: Chr6:162201182	PRKN	K161N	Parkinson disease 2	rs137853057	Pathogenic (Sep 1, 2005)	no assertion criteria provided	VCV000007043
644125; row number visually clipped	NM_004562.3(PRKN):c.125G>C (p.Arg42Pro); GRCh37: Chr6:162864388; GRCh38: Chr6:162443356	PRKN	R42P	not provided	rs368134308	Pathogenic (Dec 9, 2019)	criteria provided, single submitter	VCV000644125
578186; row number visually clipped	NM_004562.3(PRKN):c.98G>A (p.Arg33Gln); GRCh37: Chr6:162864415; GRCh38: Chr6:162443383	PRKN	R33Q	Parkinson disease 2, not provided	rs147757966	Pathogenic (May 1, 2019)	criteria provided, multiple submitters, no conflicts	VCV000578186
853293; row number visually clipped	NM_004562.3(PRKN):c.97C>T (p.Arg33Ter); GRCh37: Chr6:162864416; GRCh38: Chr6:162443384	PRKN	R33*	not provided	NA	Pathogenic (Dec 18, 2019)	criteria provided, single submitter	VCV000853293
7053; row number visually clipped	NM_004562.3(PRKN):c.7+1G>T; GRCh37: Chr6:163148693; GRCh38: Chr6:162727661	PRKN, PACRG		Parkinson disease 2	rs397518439	Pathogenic (Mar 1, 2006)	no assertion criteria provided	VCV000007053
805243; row number visually clipped	NM_004562.3(PRKN):c.2T>C (p.Met1Thr); GRCh37: Chr6:163148699; GRCh38: Chr6:162727667	PRKN, PACRG	MIT or M1T unclear	not provided	rs771586218	Pathogenic (Jun 4, 2019)	criteria provided, single submitter	VCV000805243

Note under the table:

Brain net search using above: rs397514694, rs191486604, rs137853055, rs751037529, rs34424986, rs377554392, rs747427602, rs137853054, rs137853058, rs137853060, rs1562485799, rs137853057, rs368134308, rs147757966, rs397518439, rs771586218 -> some HITS but all major alleles

Heterozygous Parkin Mutation

Table title:

Heterozygous Parkin Mutation

Result from the upper row:

Heterozygous PRKN mutations are common but do not increase the risk of Parkinson's disease

Bibliographic fragments in the left column:

2022
https://doi.org/10.1093/brain/aw...
56 BRAIN

Statusbar overlap suggests this row is related to:

(Yu, 2021 #1648)
2809 PD patients [EOPD+LOPD total]
including 1965 late-onset ...
Pathogenic and likely-pathogenic Heterozygous PRKN SNVs and CNVs Are Not Associated ...

The next row appears to cite:

Lubbe, 2021 #1880

Method text:

1. 3 cohort meta-analysis
2. [publications + PPMI + UK Biobank] meta-analysis

The visible forest plot includes highlighted rows around PPMI, UKBiobank (Genetic), and UKBiobank (Exome). OCR suggests an overall row similar to:

Overall (I-squared = 6.0%, p = 0.594)
OR 1.65 (1.36, 2.00)

Korean note under the forest plot:

1. 두 방법 다 p 값이 나오긴 함.
2. 2nd mutation 을 적극적으로 찾은 study 찾아 hetero only 만 metaanalysis해도 p 나옴.
3. EOPD 빼도 P 나옴.
4. But 2&3 combine 하면 p값 ...

The fourth sentence is cut off at the right/bottom edge and likely continues beyond this photo.

Uncertain Spans

• page_label is taken from the visible Word statusbar: Page 88 of 94.
• Row numbers after 12. are clipped or partly outside the body crop; do not rely on inferred row numbers for rows c.483A>T onward.
• NM_004562.3(PRKN):c.823C>T was read by OCR as c.823CT in places; the image appears to show c.823C>T.
• p.Arg275Trp, p.Cys268Ter, p.Cys253Tyr, p.Thr240Arg, p.Cys212Tyr, p.Lys211Asn, p.Leu187Ter, p.Lys161Asn, p.Arg42Pro, p.Arg33Gln, p.Arg33Ter, c.7+1G>T, and p.Met1Thr are uncertain strings from small text.
• The c.2T>C row protein-change field is visually ambiguous: it may be MIT, M1T, or a rendering of Met1Thr.
• PRKN, PACRG in the last two rows and the adjacent MIT text may be column-shifted by the photograph angle.
• The Brain net search line contains many rs IDs and wraps across the page. Verify the exact list, order, and whether some HITS but all major alleles is the intended note.
• The Yu, 2021 #1648 / 2022 BRAIN bibliographic information is split between the statusbar overlap and the body table; exact citation metadata is not secure.
• The Lubbe, 2021 #1880 citation is clipped on the left edge.
• The forest plot study labels, OR values, confidence intervals, weights, and overall p-value are too small for reliable structured transcription.
• The Korean note under the plot is truncated after But 2&3 combine 하면 p값.