ClinVar Genomic variation as it relates to human health
NM_001258244.2(TMEM218):c.175C>T (p.Arg59Ter)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001258244.2(TMEM218):c.175C>T (p.Arg59Ter)
Variation ID: 983529 Accession: VCV000983529.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11q24.2 11: 125101239 (GRCh38) [ NCBI UCSC ] 11: 124971135 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 6, 2020 Nov 6, 2020 Nov 5, 2020 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001258244.2:c.175C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001245173.1:p.Arg59Ter nonsense NM_001080546.3:c.175C>T NP_001074015.1:p.Arg59Ter nonsense NM_001258238.2:c.175C>T NP_001245167.1:p.Arg59Ter nonsense NM_001258239.3:c.175C>T NP_001245168.2:p.Arg59Ter nonsense NM_001258240.2:c.175C>T NP_001245169.1:p.Arg59Ter nonsense NM_001258241.2:c.175C>T NP_001245170.1:p.Arg59Ter nonsense NM_001258242.3:c.175C>T NP_001245171.2:p.Arg59Ter nonsense NM_001258243.3:c.175C>T NP_001245172.2:p.Arg59Ter nonsense NM_001258245.2:c.175C>T NP_001245174.1:p.Arg59Ter nonsense NM_001258246.3:c.175C>T NP_001245175.2:p.Arg59Ter nonsense NM_001258247.2:c.175C>T NP_001245176.1:p.Arg59Ter nonsense NM_001387230.1:c.175C>T NP_001374159.1:p.Arg59Ter nonsense NM_001387231.1:c.175C>T NP_001374160.1:p.Arg59Ter nonsense NM_001387232.1:c.175C>T NP_001374161.1:p.Arg59Ter nonsense NM_001387233.1:c.175C>T NP_001374162.1:p.Arg59Ter nonsense NM_001387234.1:c.175C>T NP_001374163.1:p.Arg59Ter nonsense NM_001387235.1:c.175C>T NP_001374164.1:p.Arg59Ter nonsense NM_001387236.1:c.175C>T NP_001374165.1:p.Arg59Ter nonsense NM_001387237.1:c.175C>T NP_001374166.1:p.Arg59Ter nonsense NM_001387238.1:c.175C>T NP_001374167.1:p.Arg59Ter nonsense NM_001387239.1:c.175C>T NP_001374168.1:p.Arg59Ter nonsense NM_001387240.1:c.175C>T NP_001374169.1:p.Arg59Ter nonsense NM_001387241.1:c.175C>T NP_001374170.1:p.Arg59Ter nonsense NM_001387242.1:c.175C>T NP_001374171.1:p.Arg59Ter nonsense NM_001387244.1:c.175C>T NP_001374173.1:p.Arg59Ter nonsense NM_001387245.1:c.175C>T NP_001374174.1:p.Arg59Ter nonsense NM_001387246.1:c.175C>T NP_001374175.1:p.Arg59Ter nonsense NM_001387247.1:c.175C>T NP_001374176.1:p.Arg59Ter nonsense NM_001387248.1:c.175C>T NP_001374177.1:p.Arg59Ter nonsense NM_001387249.1:c.253C>T NP_001374178.1:p.Arg85Ter nonsense NM_001387250.1:c.94C>T NP_001374179.1:p.Arg32Ter nonsense NM_001387251.1:c.94C>T NP_001374180.1:p.Arg32Ter nonsense NM_001387252.1:c.94C>T NP_001374181.1:p.Arg32Ter nonsense NM_001387253.1:c.94C>T NP_001374182.1:p.Arg32Ter nonsense NM_001387254.1:c.94C>T NP_001374183.1:p.Arg32Ter nonsense NM_001387255.1:c.233C>T NP_001374184.1:p.Ala78Val missense NM_001387256.1:c.233C>T NP_001374185.1:p.Ala78Val missense NM_001387257.1:c.233C>T NP_001374186.1:p.Ala78Val missense NM_001387258.1:c.233C>T NP_001374187.1:p.Ala78Val missense NM_001387259.1:c.233C>T NP_001374188.1:p.Ala78Val missense NR_047586.2:n.322C>T non-coding transcript variant NR_047587.2:n.105C>T non-coding transcript variant NR_047588.2:n.465C>T non-coding transcript variant NR_047589.2:n.229C>T non-coding transcript variant NR_047590.2:n.402C>T non-coding transcript variant NR_047591.2:n.288C>T non-coding transcript variant NR_047592.2:n.368C>T non-coding transcript variant NR_170600.1:n.284C>T non-coding transcript variant NR_170601.1:n.183C>T non-coding transcript variant NR_170602.1:n.320C>T non-coding transcript variant NR_170603.1:n.136C>T non-coding transcript variant NR_170604.1:n.233C>T non-coding transcript variant NR_170605.1:n.153C>T non-coding transcript variant NR_170606.1:n.58C>T non-coding transcript variant NR_170607.1:n.107C>T non-coding transcript variant NR_170608.1:n.138C>T non-coding transcript variant NR_170609.1:n.264C>T non-coding transcript variant NR_170610.1:n.441C>T non-coding transcript variant NR_170611.1:n.471C>T non-coding transcript variant NR_170612.1:n.182C>T non-coding transcript variant NR_170613.1:n.279C>T non-coding transcript variant NC_000011.10:g.125101239G>A NC_000011.9:g.124971135G>A - Protein change
- R59*, A78V, R32*, R85*
- Other names
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- Canonical SPDI
- NC_000011.10:125101238:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00005
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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| HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| TMEM218 | - | - |
GRCh38 GRCh37 |
15 | 77 | |
Conditions - Germline
| Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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| Pathogenic (1) |
no assertion criteria provided
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Nov 5, 2020 | RCV001263492.1 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Nov 05, 2020)
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no assertion criteria provided
Method: research
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Meckel syndrome, type 4
Affected status: yes
Allele origin:
paternal
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UW Hindbrain Malformation Research Program, University of Washington
Accession: SCV001441591.1
First in ClinVar: Nov 06, 2020 Last updated: Nov 06, 2020 |
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Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for rs758805438 ...
HelpRecord last updated Apr 25, 2022
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.