NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys) AND Spinocerebellar ataxia type 21

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 25, 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:: RCV000148346.6

Allele description [Variation Report for NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)]

NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)

Gene:

TMEM240:transmembrane protein 240 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.33

Genomic location:

Preferred name:

NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)

HGVS:

NC_000001.11:g.1535616G>A
NG_041807.1:g.9745C>T
NG_053035.1:g.28474G>A
NM_001114748.2:c.346C>TMANE SELECT
NP_001108220.1:p.Arg116Cys
NC_000001.10:g.1470996G>A
NM_001114748.1:c.346C>T
Q5SV17:p.Arg116Cys

Protein change:

R116C; ARG116CYS

Links:

UniProtKB: Q5SV17#VAR_071907; OMIM: 616101.0003; dbSNP: rs606231453

NCBI 1000 Genomes Browser:

rs606231453

Molecular consequence:

NM_001114748.2:c.346C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Spinocerebellar ataxia type 21 (SCA21)
Identifiers:: MONDO: MONDO:0011833; MedGen: C1843891; Orphanet: 98773; OMIM: 607454

Recent activity

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similar to MFS sugar transporter [Plenodomus lingam JN3]
similar to MFS sugar transporter [Plenodomus lingam JN3]
gi|312219459|emb|CBX99403.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000195810	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2014)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV004806303	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Mar 25, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000195810

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2014)

germline

literature only

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

SCV004806303

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Mar 25, 2024)

germline

clinical testing

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.

Delplanque J, Devos D, Huin V, Genet A, Sand O, Moreau C, Goizet C, Charles P, Anheim M, Monin ML, Buée L, Destée A, Grolez G, Delmaire C, Dujardin K, Dellacherie D, Brice A, Stevanin G, Strubi-Vuillaume I, Dürr A, Sablonnière B.

Brain. 2014 Oct;137(Pt 10):2657-63. doi: 10.1093/brain/awu202. Epub 2014 Jul 28.

PubMed [citation]

PMID:: 25070513

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 OMIM, SCV000195810.2

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

Description

In a French man with spinocerebellar ataxia-21 (SCA21; 607454), Delplanque et al. (2014) identified a heterozygous c.346C-T transition in exon 3 of the TMEM240 gene, resulting in an arg116-to-cys (R116C) substitution at a highly conserved residue. The mutation, which was not found in 5 unaffected family members, was not present in the dbSNP, 1000 Genomes Project, or Exome Variant Server databases, or in 396 French controls. Functional studies of the variant were not performed.

#	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

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004806303.1

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

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

Last Updated: Oct 8, 2024

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