ClinVar Genomic variation as it relates to human health
NM_020180.4(CELF4):c.655C>A (p.Pro219Thr)
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_020180.4(CELF4):c.655C>A (p.Pro219Thr)
Variation ID: 985392 Accession: VCV000985392.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 18q12.2 18: 34854770 (GRCh37) [ NCBI UCSC ] 18: 37274807 (GRCh38) [ 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 21, 2020 Jan 7, 2023 Jun 10, 2019 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_020180.4:c.655C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_064565.1:p.Pro219Thr missense NM_001025087.2:c.655C>A NP_001020258.1:p.Pro219Thr missense NM_001025088.2:c.652C>A NP_001020259.1:p.Pro218Thr missense NM_001025089.2:c.625C>A NP_001020260.1:p.Pro209Thr missense NM_001330603.2:c.652C>A NP_001317532.1:p.Pro218Thr missense NM_001353695.2:c.622C>A NP_001340624.1:p.Pro208Thr missense NM_001353696.2:c.652C>A NP_001340625.1:p.Pro218Thr missense NM_001353697.2:c.622C>A NP_001340626.1:p.Pro208Thr missense NM_001353698.2:c.652C>A NP_001340627.1:p.Pro218Thr missense NM_001353699.2:c.625C>A NP_001340628.1:p.Pro209Thr missense NM_001353700.2:c.625C>A NP_001340629.1:p.Pro209Thr missense NM_001353702.2:c.652C>A NP_001340631.1:p.Pro218Thr missense NM_001353703.2:c.625C>A NP_001340632.1:p.Pro209Thr missense NM_001353705.2:c.622C>A NP_001340634.1:p.Pro208Thr missense NM_001353706.2:c.622C>A NP_001340635.1:p.Pro208Thr missense NM_001353707.2:c.622C>A NP_001340636.1:p.Pro208Thr missense NM_001353708.2:c.655C>A NP_001340637.1:p.Pro219Thr missense NM_001353709.2:c.622C>A NP_001340638.1:p.Pro208Thr missense NM_001353710.2:c.625C>A NP_001340639.1:p.Pro209Thr missense NM_001353711.2:c.622C>A NP_001340640.1:p.Pro208Thr missense NM_001353712.2:c.652C>A NP_001340641.1:p.Pro218Thr missense NM_001353713.2:c.625C>A NP_001340642.1:p.Pro209Thr missense NM_001353714.2:c.622C>A NP_001340643.1:p.Pro208Thr missense NM_001353715.2:c.625C>A NP_001340644.1:p.Pro209Thr missense NM_001353716.2:c.652C>A NP_001340645.1:p.Pro218Thr missense NM_001353717.2:c.625C>A NP_001340646.1:p.Pro209Thr missense NM_001353718.2:c.652C>A NP_001340647.1:p.Pro218Thr missense NM_001353719.2:c.625C>A NP_001340648.1:p.Pro209Thr missense NM_001353720.2:c.625C>A NP_001340649.1:p.Pro209Thr missense NM_001353721.2:c.625C>A NP_001340650.1:p.Pro209Thr missense NM_001353722.2:c.622C>A NP_001340651.1:p.Pro208Thr missense NM_001353723.2:c.655C>A NP_001340652.1:p.Pro219Thr missense NM_001353724.2:c.655C>A NP_001340653.1:p.Pro219Thr missense NM_001353725.2:c.622C>A NP_001340654.1:p.Pro208Thr missense NM_001353726.2:c.622C>A NP_001340655.1:p.Pro208Thr missense NM_001353727.2:c.622C>A NP_001340656.1:p.Pro208Thr missense NM_001353728.2:c.622C>A NP_001340657.1:p.Pro208Thr missense NM_001353729.2:c.652C>A NP_001340658.1:p.Pro218Thr missense NM_001353730.2:c.652C>A NP_001340659.1:p.Pro218Thr missense NM_001353731.2:c.655C>A NP_001340660.1:p.Pro219Thr missense NM_001353732.2:c.622C>A NP_001340661.1:p.Pro208Thr missense NM_001353733.2:c.622C>A NP_001340662.1:p.Pro208Thr missense NM_001353734.2:c.655C>A NP_001340663.1:p.Pro219Thr missense NM_001353735.2:c.622C>A NP_001340664.1:p.Pro208Thr missense NM_001353736.2:c.655C>A NP_001340665.1:p.Pro219Thr missense NM_001353737.2:c.652C>A NP_001340666.1:p.Pro218Thr missense NM_001353738.2:c.652C>A NP_001340667.1:p.Pro218Thr missense NM_001353739.2:c.622C>A NP_001340668.1:p.Pro208Thr missense NM_001353740.2:c.655C>A NP_001340669.1:p.Pro219Thr missense NM_001353741.2:c.625C>A NP_001340670.1:p.Pro209Thr missense NM_001353742.2:c.652C>A NP_001340671.1:p.Pro218Thr missense NM_001353743.2:c.655C>A NP_001340672.1:p.Pro219Thr missense NM_001353744.2:c.655C>A NP_001340673.1:p.Pro219Thr missense NM_001353745.2:c.655C>A NP_001340674.1:p.Pro219Thr missense NM_001353746.2:c.655C>A NP_001340675.1:p.Pro219Thr missense NM_001353747.2:c.655C>A NP_001340676.1:p.Pro219Thr missense NM_001353748.2:c.625C>A NP_001340677.1:p.Pro209Thr missense NM_001353749.2:c.652C>A NP_001340678.1:p.Pro218Thr missense NM_001353750.2:c.625C>A NP_001340679.1:p.Pro209Thr missense NM_001353751.2:c.655C>A NP_001340680.1:p.Pro219Thr missense NM_001353752.2:c.625C>A NP_001340681.1:p.Pro209Thr missense NM_001353753.2:c.622C>A NP_001340682.1:p.Pro208Thr missense NM_001353754.2:c.652C>A NP_001340683.1:p.Pro218Thr missense NM_001353755.2:c.622C>A NP_001340684.1:p.Pro208Thr missense NM_001353756.2:c.283C>A NP_001340685.1:p.Pro95Thr missense NM_001353757.2:c.256C>A NP_001340686.1:p.Pro86Thr missense NM_001353758.2:c.253C>A NP_001340687.1:p.Pro85Thr missense NM_001353759.2:c.253C>A NP_001340688.1:p.Pro85Thr missense NM_001353760.2:c.256C>A NP_001340689.1:p.Pro86Thr missense NM_001353761.2:c.283C>A NP_001340690.1:p.Pro95Thr missense NR_148518.2:n.779C>A non-coding transcript variant NR_148519.2:n.779C>A non-coding transcript variant NR_148520.2:n.812C>A non-coding transcript variant NR_148521.2:n.812C>A non-coding transcript variant NR_148522.2:n.779C>A non-coding transcript variant NR_148523.2:n.782C>A non-coding transcript variant NR_148524.2:n.782C>A non-coding transcript variant NR_148525.2:n.779C>A non-coding transcript variant NR_148526.2:n.812C>A non-coding transcript variant NR_148527.2:n.812C>A non-coding transcript variant NR_148528.2:n.809C>A non-coding transcript variant NC_000018.10:g.37274807G>T NC_000018.9:g.34854770G>T - Protein change
- P208T, P209T, P218T, P219T, P85T, P86T, P95T
- Other names
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- Canonical SPDI
- NC_000018.10:37274806:G:T
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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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- 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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| CELF4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
34 | 93 | |
| LOC105372068 | - | - | - | GRCh38 | - | 29 |
Conditions - Germline
| Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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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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| Uncertain significance (1) |
criteria provided, single submitter
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Jun 10, 2019 | RCV001266268.2 |
Submissions - Germline
| Classification
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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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Uncertain significance
(Jun 10, 2019)
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criteria provided, single submitter
Method: clinical testing
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Inborn genetic diseases
Affected status: yes
Allele origin:
germline
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Ambry Genetics
Accession: SCV001444441.2
First in ClinVar: Nov 21, 2020 Last updated: Jan 07, 2023 |
Number of individuals with the variant: 1
Clinical Features:
Autistic disorder of childhood onset (present) , Intellectual disability (present) , Muscular hypotonia (present) , Delayed speech and language development (present) , Acanthosis nigricans (present) … (more)
Autistic disorder of childhood onset (present) , Intellectual disability (present) , Muscular hypotonia (present) , Delayed speech and language development (present) , Acanthosis nigricans (present) , Obesity (present) , Gynecomastia (present) , Sleep disturbance (present) , Hyperextensibility of the finger joints (present) , Gestational diabetes (present) (less)
Sex: male
Ethnicity/Population group: African American
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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| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| ETR-3 and CELF4 protein domains required for RNA binding and splicing activity in vivo. | Singh G | Nucleic acids research | 2004 | PMID: 14973222 |
Text-mined citations for rs2092752280 ...
HelpRecord last updated Jan 07, 2023
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.