ClinVar Genomic variation as it relates to human health
NM_020180.4(CELF4):c.1143C>T (p.Ala381=)
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.1143C>T (p.Ala381=)
Variation ID: 718289 Accession: VCV000718289.4
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 18q12.2 18: 37266555 (GRCh38) [ NCBI UCSC ] 18: 34846518 (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 Dec 17, 2019 Sep 29, 2024 Aug 3, 2018 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_020180.4:c.1143C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_064565.1:p.Ala381= synonymous NM_001025087.2:c.1140C>T NP_001020258.1:p.Ala380= synonymous NM_001025088.2:c.1137C>T NP_001020259.1:p.Ala379= synonymous NM_001025089.2:c.1113C>T NP_001020260.1:p.Ala371= synonymous NM_001330603.2:c.1140C>T NP_001317532.1:p.Ala380= synonymous NM_001353695.2:c.1110C>T NP_001340624.1:p.Ala370= synonymous NM_001353696.2:c.1140C>T NP_001340625.1:p.Ala380= synonymous NM_001353697.2:c.1110C>T NP_001340626.1:p.Ala370= synonymous NM_001353698.2:c.1140C>T NP_001340627.1:p.Ala380= synonymous NM_001353699.2:c.1110C>T NP_001340628.1:p.Ala370= synonymous NM_001353700.2:c.1113C>T NP_001340629.1:p.Ala371= synonymous NM_001353702.2:c.1137C>T NP_001340631.1:p.Ala379= synonymous NM_001353703.2:c.1113C>T NP_001340632.1:p.Ala371= synonymous NM_001353705.2:c.1107C>T NP_001340634.1:p.Ala369= synonymous NM_001353706.2:c.1107C>T NP_001340635.1:p.Ala369= synonymous NM_001353707.2:c.1110C>T NP_001340636.1:p.Ala370= synonymous NM_001353708.2:c.1143C>T NP_001340637.1:p.Ala381= synonymous NM_001353709.2:c.1110C>T NP_001340638.1:p.Ala370= synonymous NM_001353710.2:c.1113C>T NP_001340639.1:p.Ala371= synonymous NM_001353711.2:c.1107C>T NP_001340640.1:p.Ala369= synonymous NM_001353712.2:c.1137C>T NP_001340641.1:p.Ala379= synonymous NM_001353713.2:c.1110C>T NP_001340642.1:p.Ala370= synonymous NM_001353714.2:c.1110C>T NP_001340643.1:p.Ala370= synonymous NM_001353715.2:c.1113C>T NP_001340644.1:p.Ala371= synonymous NM_001353716.2:c.1137C>T NP_001340645.1:p.Ala379= synonymous NM_001353717.2:c.1113C>T NP_001340646.1:p.Ala371= synonymous NM_001353718.2:c.1140C>T NP_001340647.1:p.Ala380= synonymous NM_001353719.2:c.1113C>T NP_001340648.1:p.Ala371= synonymous NM_001353720.2:c.1113C>T NP_001340649.1:p.Ala371= synonymous NM_001353721.2:c.1110C>T NP_001340650.1:p.Ala370= synonymous NM_001353722.2:c.1107C>T NP_001340651.1:p.Ala369= synonymous NM_001353723.2:c.1140C>T NP_001340652.1:p.Ala380= synonymous NM_001353724.2:c.1143C>T NP_001340653.1:p.Ala381= synonymous NM_001353725.2:c.1107C>T NP_001340654.1:p.Ala369= synonymous NM_001353726.2:c.1110C>T NP_001340655.1:p.Ala370= synonymous NM_001353727.2:c.1110C>T NP_001340656.1:p.Ala370= synonymous NM_001353728.2:c.1110C>T NP_001340657.1:p.Ala370= synonymous NM_001353729.2:c.1140C>T NP_001340658.1:p.Ala380= synonymous NM_001353730.2:c.1140C>T NP_001340659.1:p.Ala380= synonymous NM_001353731.2:c.1143C>T NP_001340660.1:p.Ala381= synonymous NM_001353732.2:c.1110C>T NP_001340661.1:p.Ala370= synonymous NM_001353733.2:c.1107C>T NP_001340662.1:p.Ala369= synonymous NM_001353734.2:c.1143C>T NP_001340663.1:p.Ala381= synonymous NM_001353735.2:c.1110C>T NP_001340664.1:p.Ala370= synonymous NM_001353736.2:c.1143C>T NP_001340665.1:p.Ala381= synonymous NM_001353737.2:c.1140C>T NP_001340666.1:p.Ala380= synonymous NM_001353738.2:c.1140C>T NP_001340667.1:p.Ala380= synonymous NM_001353739.2:c.1107C>T NP_001340668.1:p.Ala369= synonymous NM_001353740.2:c.1143C>T NP_001340669.1:p.Ala381= synonymous NM_001353741.2:c.1110C>T NP_001340670.1:p.Ala370= synonymous NM_001353742.2:c.1140C>T NP_001340671.1:p.Ala380= synonymous NM_001353743.2:c.1143C>T NP_001340672.1:p.Ala381= synonymous NM_001353744.2:c.1143C>T NP_001340673.1:p.Ala381= synonymous NM_001353745.2:c.1140C>T NP_001340674.1:p.Ala380= synonymous NM_001353746.2:c.1140C>T NP_001340675.1:p.Ala380= synonymous NM_001353747.2:c.1140C>T NP_001340676.1:p.Ala380= synonymous NM_001353748.2:c.1113C>T NP_001340677.1:p.Ala371= synonymous NM_001353749.2:c.1140C>T NP_001340678.1:p.Ala380= synonymous NM_001353750.2:c.1110C>T NP_001340679.1:p.Ala370= synonymous NM_001353751.2:c.1143C>T NP_001340680.1:p.Ala381= synonymous NM_001353752.2:c.1110C>T NP_001340681.1:p.Ala370= synonymous NM_001353753.2:c.1110C>T NP_001340682.1:p.Ala370= synonymous NM_001353754.2:c.1137C>T NP_001340683.1:p.Ala379= synonymous NM_001353755.2:c.1107C>T NP_001340684.1:p.Ala369= synonymous NM_001353756.2:c.771C>T NP_001340685.1:p.Ala257= synonymous NM_001353757.2:c.744C>T NP_001340686.1:p.Ala248= synonymous NM_001353758.2:c.741C>T NP_001340687.1:p.Ala247= synonymous NM_001353759.2:c.741C>T NP_001340688.1:p.Ala247= synonymous NM_001353760.2:c.744C>T NP_001340689.1:p.Ala248= synonymous NM_001353761.2:c.771C>T NP_001340690.1:p.Ala257= synonymous NR_148518.2:n.1267C>T non-coding transcript variant NR_148519.2:n.1264C>T non-coding transcript variant NR_148520.2:n.1297C>T non-coding transcript variant NR_148521.2:n.1300C>T non-coding transcript variant NR_148522.2:n.1264C>T non-coding transcript variant NR_148523.2:n.1270C>T non-coding transcript variant NR_148524.2:n.1267C>T non-coding transcript variant NR_148525.2:n.1267C>T non-coding transcript variant NR_148526.2:n.1297C>T non-coding transcript variant NR_148527.2:n.1300C>T non-coding transcript variant NR_148528.2:n.1297C>T non-coding transcript variant NC_000018.10:g.37266555G>A NC_000018.9:g.34846518G>A - Protein change
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- Other names
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- Canonical SPDI
- NC_000018.10:37266554: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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0.00100 (A)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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1000 Genomes Project 30x 0.00094
1000 Genomes Project 0.00100
The Genome Aggregation Database (gnomAD), exomes 0.00165
The Genome Aggregation Database (gnomAD) 0.00184
Trans-Omics for Precision Medicine (TOPMed) 0.00189
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00277
Exome Aggregation Consortium (ExAC) 0.00333
- 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
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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
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
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. |
|---|---|---|---|---|
| Benign (2) |
criteria provided, multiple submitters, no conflicts
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Aug 3, 2018 | RCV000891213.4 |
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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Benign
(Aug 03, 2018)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001035015.1
First in ClinVar: Dec 17, 2019 Last updated: Dec 17, 2019 |
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Benign
(-)
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criteria provided, single submitter
Method: not provided
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not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
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Breakthrough Genomics, Breakthrough Genomics
Accession: SCV005247870.1
First in ClinVar: Sep 29, 2024 Last updated: Sep 29, 2024 |
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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 rs145042940 ...
HelpRecord last updated Sep 29, 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.