NM_203446.3(SYNJ1):c.-56G>T AND Early-onset Parkinson disease 20

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 20, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV004577543.2

Allele description [Variation Report for NM_203446.3(SYNJ1):c.-56G>T]

NM_203446.3(SYNJ1):c.-56G>T

Gene:

SYNJ1:synaptojanin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

Preferred name:

NM_203446.3(SYNJ1):c.-56G>T

HGVS:

NC_000021.9:g.32727979C>A
NG_030017.2:g.5061G>T
NG_144204.1:g.360C>A
NM_003895.4:c.62G>T
NM_203446.3:c.-56G>TMANE SELECT
NP_003886.3:p.Cys21Phe
NP_003886.3:p.Cys21Phe
NC_000021.8:g.34100290C>A
NG_030017.1:g.5062G>T
NM_003895.3:c.62G>T

Protein change:

C21F

Links:

dbSNP: rs1486511197

Molecular consequence:

NM_203446.3:c.-56G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_003895.4:c.62G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Early-onset Parkinson disease 20
Identifiers:: MONDO: MONDO:0014233; MedGen: C3809824; Orphanet: 391411; OMIM: 615530

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004177280	Human Genetics Laboratory, State University of Rio de Janeiro	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Dec 20, 2023)	unknown	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004177280

Human Genetics Laboratory, State University of Rio de Janeiro

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Dec 20, 2023)

unknown

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
mixed	unknown	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Human Genetics Laboratory, State University of Rio de Janeiro, SCV004177280.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	mixed	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 13, 2025

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Relating variation to medicine