ClinVar Genomic variation as it relates to human health
NM_020180.4(CELF4):c.74G>A (p.Ser25Asn)
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.74G>A (p.Ser25Asn)
Variation ID: 493234 Accession: VCV000493234.29
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 18q12.2 18: 37565568 (GRCh38) [ NCBI UCSC ] 18: 35145531 (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 Mar 3, 2018 Oct 20, 2024 Nov 1, 2017 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_020180.4:c.74G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_064565.1:p.Ser25Asn missense NM_001025087.2:c.74G>A NP_001020258.1:p.Ser25Asn missense NM_001025088.2:c.74G>A NP_001020259.1:p.Ser25Asn missense NM_001025089.2:c.74G>A NP_001020260.1:p.Ser25Asn missense NM_001330603.2:c.74G>A NP_001317532.1:p.Ser25Asn missense NM_001353695.2:c.74G>A NP_001340624.1:p.Ser25Asn missense NM_001353696.2:c.74G>A NP_001340625.1:p.Ser25Asn missense NM_001353697.2:c.74G>A NP_001340626.1:p.Ser25Asn missense NM_001353698.2:c.74G>A NP_001340627.1:p.Ser25Asn missense NM_001353699.2:c.74G>A NP_001340628.1:p.Ser25Asn missense NM_001353700.2:c.74G>A NP_001340629.1:p.Ser25Asn missense NM_001353701.2:c.74G>A NP_001340630.1:p.Ser25Asn missense NM_001353702.2:c.74G>A NP_001340631.1:p.Ser25Asn missense NM_001353703.2:c.74G>A NP_001340632.1:p.Ser25Asn missense NM_001353705.2:c.74G>A NP_001340634.1:p.Ser25Asn missense NM_001353706.2:c.74G>A NP_001340635.1:p.Ser25Asn missense NM_001353707.2:c.74G>A NP_001340636.1:p.Ser25Asn missense NM_001353708.2:c.74G>A NP_001340637.1:p.Ser25Asn missense NM_001353709.2:c.74G>A NP_001340638.1:p.Ser25Asn missense NM_001353710.2:c.74G>A NP_001340639.1:p.Ser25Asn missense NM_001353711.2:c.74G>A NP_001340640.1:p.Ser25Asn missense NM_001353712.2:c.74G>A NP_001340641.1:p.Ser25Asn missense NM_001353713.2:c.74G>A NP_001340642.1:p.Ser25Asn missense NM_001353714.2:c.74G>A NP_001340643.1:p.Ser25Asn missense NM_001353715.2:c.74G>A NP_001340644.1:p.Ser25Asn missense NM_001353716.2:c.74G>A NP_001340645.1:p.Ser25Asn missense NM_001353717.2:c.74G>A NP_001340646.1:p.Ser25Asn missense NM_001353718.2:c.74G>A NP_001340647.1:p.Ser25Asn missense NM_001353719.2:c.74G>A NP_001340648.1:p.Ser25Asn missense NM_001353720.2:c.74G>A NP_001340649.1:p.Ser25Asn missense NM_001353721.2:c.74G>A NP_001340650.1:p.Ser25Asn missense NM_001353722.2:c.74G>A NP_001340651.1:p.Ser25Asn missense NM_001353723.2:c.74G>A NP_001340652.1:p.Ser25Asn missense NM_001353724.2:c.74G>A NP_001340653.1:p.Ser25Asn missense NM_001353725.2:c.74G>A NP_001340654.1:p.Ser25Asn missense NM_001353726.2:c.74G>A NP_001340655.1:p.Ser25Asn missense NM_001353727.2:c.74G>A NP_001340656.1:p.Ser25Asn missense NM_001353728.2:c.74G>A NP_001340657.1:p.Ser25Asn missense NM_001353729.2:c.74G>A NP_001340658.1:p.Ser25Asn missense NM_001353730.2:c.74G>A NP_001340659.1:p.Ser25Asn missense NM_001353731.2:c.74G>A NP_001340660.1:p.Ser25Asn missense NM_001353732.2:c.74G>A NP_001340661.1:p.Ser25Asn missense NM_001353733.2:c.74G>A NP_001340662.1:p.Ser25Asn missense NM_001353734.2:c.74G>A NP_001340663.1:p.Ser25Asn missense NM_001353735.2:c.74G>A NP_001340664.1:p.Ser25Asn missense NM_001353736.2:c.74G>A NP_001340665.1:p.Ser25Asn missense NM_001353737.2:c.74G>A NP_001340666.1:p.Ser25Asn missense NM_001353738.2:c.74G>A NP_001340667.1:p.Ser25Asn missense NM_001353739.2:c.74G>A NP_001340668.1:p.Ser25Asn missense NM_001353740.2:c.74G>A NP_001340669.1:p.Ser25Asn missense NM_001353741.2:c.74G>A NP_001340670.1:p.Ser25Asn missense NM_001353742.2:c.74G>A NP_001340671.1:p.Ser25Asn missense NM_001353743.2:c.74G>A NP_001340672.1:p.Ser25Asn missense NM_001353744.2:c.74G>A NP_001340673.1:p.Ser25Asn missense NM_001353745.2:c.74G>A NP_001340674.1:p.Ser25Asn missense NM_001353746.2:c.74G>A NP_001340675.1:p.Ser25Asn missense NM_001353747.2:c.74G>A NP_001340676.1:p.Ser25Asn missense NM_001353748.2:c.74G>A NP_001340677.1:p.Ser25Asn missense NM_001353749.2:c.74G>A NP_001340678.1:p.Ser25Asn missense NM_001353750.2:c.74G>A NP_001340679.1:p.Ser25Asn missense NM_001353751.2:c.74G>A NP_001340680.1:p.Ser25Asn missense NM_001353752.2:c.74G>A NP_001340681.1:p.Ser25Asn missense NM_001353753.2:c.74G>A NP_001340682.1:p.Ser25Asn missense NM_001353754.2:c.74G>A NP_001340683.1:p.Ser25Asn missense NM_001353755.2:c.74G>A NP_001340684.1:p.Ser25Asn missense NR_148518.2:n.231G>A non-coding transcript variant NR_148519.2:n.231G>A non-coding transcript variant NR_148520.2:n.231G>A non-coding transcript variant NR_148521.2:n.231G>A non-coding transcript variant NR_148522.2:n.231G>A non-coding transcript variant NR_148523.2:n.231G>A non-coding transcript variant NR_148524.2:n.231G>A non-coding transcript variant NR_148525.2:n.231G>A non-coding transcript variant NR_148526.2:n.231G>A non-coding transcript variant NR_148527.2:n.231G>A non-coding transcript variant NR_148528.2:n.231G>A non-coding transcript variant NC_000018.10:g.37565568C>T NC_000018.9:g.35145531C>T - Protein change
- S25N
- Other names
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- Canonical SPDI
- NC_000018.10:37565567:C: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
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
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 | |
Conditions - Germline
| Condition
Help
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
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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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Nov 1, 2017 | RCV000585277.23 |
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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Uncertain significance
(Nov 01, 2017)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV000692933.30
First in ClinVar: Mar 03, 2018 Last updated: Oct 20, 2024 |
Number of individuals with the variant: 1
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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 rs1555685314 ...
HelpRecord last updated Oct 20, 2024
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.