NM_203446.3(SYNJ1):c.592C>T (p.Gln198Ter) AND Early-onset Parkinson disease 20

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 4, 2024
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:: RCV004799100.1

Allele description [Variation Report for NM_203446.3(SYNJ1):c.592C>T (p.Gln198Ter)]

NM_203446.3(SYNJ1):c.592C>T (p.Gln198Ter)

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.592C>T (p.Gln198Ter)

HGVS:

NC_000021.9:g.32695170G>A
NG_030017.1:g.37872C>T
NG_030017.2:g.37870C>T
NM_001160302.2:c.592C>T
NM_001160306.2:c.592C>T
NM_003895.4:c.709C>T
NM_203446.3:c.592C>TMANE SELECT
NP_001153774.1:p.Gln198Ter
NP_001153778.1:p.Gln198Ter
NP_003886.3:p.Gln237Ter
NP_982271.3:p.Gln198Ter
NC_000021.8:g.34067480G>A
NM_003895.3:c.709C>T

Protein change:

Q198*

Molecular consequence:

NM_001160302.2:c.592C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001160306.2:c.592C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_003895.4:c.709C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_203446.3:c.592C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005420643	Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 4, 2024)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005420643

Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 4, 2024)

germline

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
not provided	germline	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 Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital, SCV005420643.1

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

Description

PVS1,PM2

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

Last Updated: Dec 14, 2024

ClinVar

Relating variation to medicine