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NM_001258244.2(TMEM218):c.239G>A (p.Arg80His) AND Familial aplasia of the vermis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 5, 2020
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:
RCV001263489.1

Allele description [Variation Report for NM_001258244.2(TMEM218):c.239G>A (p.Arg80His)]

NM_001258244.2(TMEM218):c.239G>A (p.Arg80His)

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.239G>A (p.Arg80His)
Other names:
R115H
HGVS:
  • NC_000011.10:g.125097715C>T
  • NM_001080546.1:c.239G>A
  • NM_001080546.3:c.239G>A
  • NM_001258238.2:c.239G>A
  • NM_001258239.3:c.239G>A
  • NM_001258240.2:c.239G>A
  • NM_001258241.2:c.239G>A
  • NM_001258242.3:c.239G>A
  • NM_001258243.3:c.239G>A
  • NM_001258244.2:c.239G>AMANE SELECT
  • NM_001258245.2:c.239G>A
  • NM_001258246.3:c.239G>A
  • NM_001258247.2:c.239G>A
  • NM_001387230.1:c.239G>A
  • NM_001387231.1:c.239G>A
  • NM_001387232.1:c.239G>A
  • NM_001387233.1:c.239G>A
  • NM_001387234.1:c.239G>A
  • NM_001387235.1:c.239G>A
  • NM_001387236.1:c.239G>A
  • NM_001387237.1:c.239G>A
  • NM_001387238.1:c.239G>A
  • NM_001387239.1:c.239G>A
  • NM_001387240.1:c.239G>A
  • NM_001387241.1:c.239G>A
  • NM_001387242.1:c.239G>A
  • NM_001387244.1:c.239G>A
  • NM_001387245.1:c.239G>A
  • NM_001387246.1:c.239G>A
  • NM_001387247.1:c.239G>A
  • NM_001387248.1:c.239G>A
  • NM_001387249.1:c.317G>A
  • NM_001387250.1:c.158G>A
  • NM_001387251.1:c.158G>A
  • NM_001387252.1:c.158G>A
  • NM_001387253.1:c.158G>A
  • NM_001387254.1:c.158G>A
  • NM_001387255.1:c.*54G>A
  • NM_001387256.1:c.*54G>A
  • NM_001387257.1:c.*54G>A
  • NM_001387258.1:c.*54G>A
  • NM_001387259.1:c.*54G>A
  • NP_001074015.1:p.Arg80His
  • NP_001245167.1:p.Arg80His
  • NP_001245168.2:p.Arg80His
  • NP_001245169.1:p.Arg80His
  • NP_001245170.1:p.Arg80His
  • NP_001245171.2:p.Arg80His
  • NP_001245172.2:p.Arg80His
  • NP_001245173.1:p.Arg80His
  • NP_001245174.1:p.Arg80His
  • NP_001245175.2:p.Arg80His
  • NP_001245176.1:p.Arg80His
  • NP_001374159.1:p.Arg80His
  • NP_001374160.1:p.Arg80His
  • NP_001374161.1:p.Arg80His
  • NP_001374162.1:p.Arg80His
  • NP_001374163.1:p.Arg80His
  • NP_001374164.1:p.Arg80His
  • NP_001374165.1:p.Arg80His
  • NP_001374166.1:p.Arg80His
  • NP_001374167.1:p.Arg80His
  • NP_001374168.1:p.Arg80His
  • NP_001374169.1:p.Arg80His
  • NP_001374170.1:p.Arg80His
  • NP_001374171.1:p.Arg80His
  • NP_001374173.1:p.Arg80His
  • NP_001374174.1:p.Arg80His
  • NP_001374175.1:p.Arg80His
  • NP_001374176.1:p.Arg80His
  • NP_001374177.1:p.Arg80His
  • NP_001374178.1:p.Arg106His
  • NP_001374179.1:p.Arg53His
  • NP_001374180.1:p.Arg53His
  • NP_001374181.1:p.Arg53His
  • NP_001374182.1:p.Arg53His
  • NP_001374183.1:p.Arg53His
  • NC_000011.9:g.124967611C>T
  • NM_001258243.1:c.344G>A
  • NR_047586.2:n.386G>A
  • NR_047587.2:n.169G>A
  • NR_047588.2:n.529G>A
  • NR_047589.2:n.293G>A
  • NR_047590.2:n.466G>A
  • NR_047591.2:n.352G>A
  • NR_047592.2:n.432G>A
  • NR_170600.1:n.348G>A
  • NR_170601.1:n.247G>A
  • NR_170602.1:n.384G>A
  • NR_170603.1:n.200G>A
  • NR_170604.1:n.297G>A
  • NR_170605.1:n.217G>A
  • NR_170606.1:n.122G>A
  • NR_170607.1:n.171G>A
  • NR_170608.1:n.202G>A
  • NR_170609.1:n.328G>A
  • NR_170610.1:n.505G>A
  • NR_170611.1:n.535G>A
  • NR_170612.1:n.246G>A
  • NR_170613.1:n.343G>A
Protein change:
R106H; ARG115HIS
Links:
OMIM: 619285.0001; dbSNP: rs575689990
NCBI 1000 Genomes Browser:
rs575689990
Molecular consequence:
  • NM_001387255.1:c.*54G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001387256.1:c.*54G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001387257.1:c.*54G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001387258.1:c.*54G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001387259.1:c.*54G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001080546.3:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258238.2:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258239.3:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258240.2:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258241.2:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258242.3:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258243.3:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258244.2:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258245.2:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258246.3:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001258247.2:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387230.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387231.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387232.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387233.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387234.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387235.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387236.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387237.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387238.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387239.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387240.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387241.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387242.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387244.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387245.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387246.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387247.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387248.1:c.239G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387249.1:c.317G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387250.1:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387251.1:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387252.1:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387253.1:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387254.1:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047586.2:n.386G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047587.2:n.169G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047588.2:n.529G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047589.2:n.293G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047590.2:n.466G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047591.2:n.352G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_047592.2:n.432G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170600.1:n.348G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170601.1:n.247G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170602.1:n.384G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170603.1:n.200G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170604.1:n.297G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170605.1:n.217G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170606.1:n.122G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170607.1:n.171G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170608.1:n.202G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170609.1:n.328G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170610.1:n.505G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170611.1:n.535G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170612.1:n.246G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170613.1:n.343G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Familial aplasia of the vermis
Synonyms:
CEREBELLOPARENCHYMAL DISORDER IV; Joubert syndrome; Cerebelloparenchymal disorder 4; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018772; MedGen: C0431399; Orphanet: 475; OMIM: PS213300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001441588UW Hindbrain Malformation Research Program, University of Washington
no assertion criteria provided
Pathogenic
(Nov 5, 2020) 		maternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From UW Hindbrain Malformation Research Program, University of Washington, SCV001441588.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024