NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala) AND Brain dopamine-serotonin vesicular transport disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 11, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004576976.1

Allele description [Variation Report for NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala)]

NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala)

Gene:

SLC18A2:solute carrier family 18 member A2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q25.3

Genomic location:

Preferred name:

NM_003054.6(SLC18A2):c.946C>G (p.Pro316Ala)

HGVS:

NC_000010.11:g.117257847C>G
NM_003054.6:c.946C>GMANE SELECT
NP_003045.2:p.Pro316Ala
NC_000010.10:g.119017358C>G
NM_003054.4:c.946C>G

Protein change:

P316A; PRO316ALA

Links:

OMIM: 193001.0003; dbSNP: rs1589981178

NCBI 1000 Genomes Browser:

rs1589981178

Molecular consequence:

NM_003054.6:c.946C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Brain dopamine-serotonin vesicular transport disease (PKDYS2)
Synonyms:: Parkinsonism-dystonia, infantile, 2; PARKINSONISM-DYSTONIA 2, INFANTILE-ONSET; BRAIN MONOAMINE VESICULAR TRANSPORT DISEASE
Identifiers:: MONDO: MONDO:0018130; MedGen: C4303546; OMIM: 618049

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004175904	OMIM	no assertion criteria provided	Pathogenic (Dec 11, 2023)	germline	literature only	Padmakumar, M., Jaeken, J., Ramaekers, V., Lagae, L., Greene, D., Thys, C., Van Geet, C., BioResource, N., Stirrups, K., Downes, K., Turro, E., Freson, K. A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. JIMD Rep. 47: 9-16, 2019.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004175904

OMIM

no assertion criteria provided

Pathogenic
(Dec 11, 2023)

germline

literature only

Padmakumar, M., Jaeken, J., Ramaekers, V., Lagae, L., Greene, D., Thys, C., Van Geet, C., BioResource, N., Stirrups, K., Downes, K., Turro, E., Freson, K. A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets. JIMD Rep. 47: 9-16, 2019.

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From OMIM, SCV004175904.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

Description

In a 5-year-old boy, born to consanguineous parents, with infantile parkinsonism-dystonia-2 (PKDYS2; 618049), Padmakumar et al. (2019) identified homozygosity for a c.946C-G transversion in the SLC18A2 gene, resulting in a pro316-to-ala (P316A) substitution at a highly conserved residue. The mutation, which was identified by whole-genome sequencing and confirmed by Sanger sequencing, was present in heterozygous state in the parents. The mutation was not present in the gnomAD database.

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

Last Updated: Nov 24, 2024

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