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NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val) AND Joubert syndrome 39

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 12, 2021
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:
RCV001729827.1

Allele description [Variation Report for NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)]

NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)

Gene:
TMEM218:transmembrane protein 218 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q24.2
Genomic location:
Preferred name:
NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val)
HGVS:
  • NC_000011.10:g.125102216C>A
  • NM_001080546.3:c.26G>T
  • NM_001258238.2:c.26G>T
  • NM_001258239.3:c.26G>T
  • NM_001258240.2:c.26G>T
  • NM_001258241.2:c.26G>T
  • NM_001258242.3:c.26G>T
  • NM_001258243.3:c.26G>T
  • NM_001258244.2:c.26G>TMANE SELECT
  • NM_001258245.2:c.26G>T
  • NM_001258246.3:c.26G>T
  • NM_001258247.2:c.26G>T
  • NM_001387230.1:c.26G>T
  • NM_001387231.1:c.26G>T
  • NM_001387232.1:c.26G>T
  • NM_001387233.1:c.26G>T
  • NM_001387234.1:c.26G>T
  • NM_001387235.1:c.26G>T
  • NM_001387236.1:c.26G>T
  • NM_001387237.1:c.26G>T
  • NM_001387238.1:c.26G>T
  • NM_001387239.1:c.26G>T
  • NM_001387240.1:c.26G>T
  • NM_001387241.1:c.26G>T
  • NM_001387242.1:c.26G>T
  • NM_001387244.1:c.26G>T
  • NM_001387245.1:c.26G>T
  • NM_001387246.1:c.26G>T
  • NM_001387247.1:c.26G>T
  • NM_001387248.1:c.26G>T
  • NM_001387249.1:c.26G>T
  • NM_001387250.1:c.29+421G>T
  • NM_001387251.1:c.29+421G>T
  • NM_001387252.1:c.29+421G>T
  • NM_001387253.1:c.29+421G>T
  • NM_001387254.1:c.29+421G>T
  • NM_001387255.1:c.131G>T
  • NM_001387256.1:c.131G>T
  • NM_001387257.1:c.131G>T
  • NM_001387258.1:c.131G>T
  • NM_001387259.1:c.131G>T
  • NP_001074015.1:p.Gly9Val
  • NP_001245167.1:p.Gly9Val
  • NP_001245168.2:p.Gly9Val
  • NP_001245169.1:p.Gly9Val
  • NP_001245170.1:p.Gly9Val
  • NP_001245171.2:p.Gly9Val
  • NP_001245172.2:p.Gly9Val
  • NP_001245173.1:p.Gly9Val
  • NP_001245174.1:p.Gly9Val
  • NP_001245175.2:p.Gly9Val
  • NP_001245176.1:p.Gly9Val
  • NP_001374159.1:p.Gly9Val
  • NP_001374160.1:p.Gly9Val
  • NP_001374161.1:p.Gly9Val
  • NP_001374162.1:p.Gly9Val
  • NP_001374163.1:p.Gly9Val
  • NP_001374164.1:p.Gly9Val
  • NP_001374165.1:p.Gly9Val
  • NP_001374166.1:p.Gly9Val
  • NP_001374167.1:p.Gly9Val
  • NP_001374168.1:p.Gly9Val
  • NP_001374169.1:p.Gly9Val
  • NP_001374170.1:p.Gly9Val
  • NP_001374171.1:p.Gly9Val
  • NP_001374173.1:p.Gly9Val
  • NP_001374174.1:p.Gly9Val
  • NP_001374175.1:p.Gly9Val
  • NP_001374176.1:p.Gly9Val
  • NP_001374177.1:p.Gly9Val
  • NP_001374178.1:p.Gly9Val
  • NP_001374184.1:p.Gly44Val
  • NP_001374185.1:p.Gly44Val
  • NP_001374186.1:p.Gly44Val
  • NP_001374187.1:p.Gly44Val
  • NP_001374188.1:p.Gly44Val
  • NC_000011.9:g.124972112C>A
  • NM_001258243.1:c.131G>T
  • NR_047586.2:n.220G>T
  • NR_047588.2:n.363G>T
  • NR_047590.2:n.300G>T
  • NR_047592.2:n.266G>T
  • NR_170602.1:n.218G>T
  • NR_170611.1:n.369G>T
Protein change:
G44V; GLY44VAL
Links:
OMIM: 619285.0003; dbSNP: rs1950967763
NCBI 1000 Genomes Browser:
rs1950967763
Molecular consequence:
  • NM_001387250.1:c.29+421G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387251.1:c.29+421G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387252.1:c.29+421G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387253.1:c.29+421G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001387254.1:c.29+421G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001080546.3:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258238.2:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258239.3:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258240.2:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258241.2:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258242.3:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258243.3:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258244.2:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258245.2:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258246.3:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258247.2:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387230.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387231.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387232.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387233.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387234.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387235.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387236.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387237.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387238.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387239.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387240.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387241.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387242.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387244.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387245.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387246.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387247.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387248.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387249.1:c.26G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387255.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387256.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387257.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387258.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387259.1:c.131G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047586.2:n.220G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047588.2:n.363G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047590.2:n.300G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047592.2:n.266G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170602.1:n.218G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170611.1:n.369G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Joubert syndrome 39 (JBTS39)
Identifiers:
MONDO: MONDO:0030454; MedGen: C5562000; OMIM: 619562

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001977562OMIM
no assertion criteria provided
Pathogenic
(Oct 12, 2021) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.

Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM; University of Washington Center for Mendelian Genomics., Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D.

HGG Adv. 2021 Jan 14;2(1). doi:pii: 100016. 10.1016/j.xhgg.2020.100016. Epub 2020 Nov 21.

PubMed [citation]
PMID:
33791682
PMCID:
PMC8009330

Details of each submission

From OMIM, SCV001977562.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 5-year-old girl, born of consanguineous Irani parents (family UCL), with Joubert syndrome-39 (JBTS39; 619562), Van De Weghe et al. (2021) identified a homozygous c.131G-T transversion (c.131G-T, NM_001258243.1) in the TMEM218 gene, resulting in a gly44-to-val (G44V) substitution at a conserved residue. The mutation, which was found by exome sequencing, was present in heterozygous state in each unaffected parent. Functional studies of the variant and studies of patient cells were not performed.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023