ClinVar Genomic variation as it relates to human health
NM_001376376.1(CELF1):c.287G>A (p.Arg96His)
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_001376376.1(CELF1):c.287G>A (p.Arg96His)
Variation ID: 2529125 Accession: VCV002529125.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p11.2 11: 47487214 (GRCh38) [ NCBI UCSC ] 11: 47508766 (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 Jul 8, 2023 May 1, 2024 Mar 24, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001376376.1:c.287G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363305.1:p.Arg96His missense NM_001025596.3:c.206G>A NP_001020767.1:p.Arg69His missense NM_001172639.2:c.287G>A NP_001166110.1:p.Arg96His missense NM_001172640.2:c.206G>A NP_001166111.1:p.Arg69His missense NM_001330272.2:c.287G>A NP_001317201.1:p.Arg96His missense NM_001376369.1:c.287G>A NP_001363298.1:p.Arg96His missense NM_001376370.1:c.287G>A NP_001363299.1:p.Arg96His missense NM_001376371.1:c.287G>A NP_001363300.1:p.Arg96His missense NM_001376372.1:c.287G>A NP_001363301.1:p.Arg96His missense NM_001376373.1:c.287G>A NP_001363302.1:p.Arg96His missense NM_001376374.1:c.287G>A NP_001363303.1:p.Arg96His missense NM_001376375.1:c.287G>A NP_001363304.1:p.Arg96His missense NM_001376377.1:c.287G>A NP_001363306.1:p.Arg96His missense NM_001376378.1:c.287G>A NP_001363307.1:p.Arg96His missense NM_001376379.1:c.287G>A NP_001363308.1:p.Arg96His missense NM_001376380.1:c.287G>A NP_001363309.1:p.Arg96His missense NM_001376381.1:c.287G>A NP_001363310.1:p.Arg96His missense NM_001376382.1:c.287G>A NP_001363311.1:p.Arg96His missense NM_001376383.1:c.287G>A NP_001363312.1:p.Arg96His missense NM_001376384.1:c.287G>A NP_001363313.1:p.Arg96His missense NM_001376385.1:c.287G>A NP_001363314.1:p.Arg96His missense NM_001376386.1:c.287G>A NP_001363315.1:p.Arg96His missense NM_001376387.1:c.287G>A NP_001363316.1:p.Arg96His missense NM_001376388.1:c.287G>A NP_001363317.1:p.Arg96His missense NM_001376389.1:c.287G>A NP_001363318.1:p.Arg96His missense NM_001376390.1:c.287G>A NP_001363319.1:p.Arg96His missense NM_001376391.1:c.287G>A NP_001363320.1:p.Arg96His missense NM_001376393.1:c.206G>A NP_001363322.1:p.Arg69His missense NM_001376395.1:c.206G>A NP_001363324.1:p.Arg69His missense NM_001376396.1:c.206G>A NP_001363325.1:p.Arg69His missense NM_001376397.1:c.206G>A NP_001363326.1:p.Arg69His missense NM_001376399.1:c.206G>A NP_001363328.1:p.Arg69His missense NM_001376406.1:c.206G>A NP_001363335.1:p.Arg69His missense NM_001376407.1:c.206G>A NP_001363336.1:p.Arg69His missense NM_001376408.1:c.206G>A NP_001363337.1:p.Arg69His missense NM_001376409.1:c.206G>A NP_001363338.1:p.Arg69His missense NM_001376410.1:c.206G>A NP_001363339.1:p.Arg69His missense NM_001376411.1:c.206G>A NP_001363340.1:p.Arg69His missense NM_001376412.1:c.206G>A NP_001363341.1:p.Arg69His missense NM_001376413.1:c.206G>A NP_001363342.1:p.Arg69His missense NM_001376414.1:c.206G>A NP_001363343.1:p.Arg69His missense NM_001376415.1:c.206G>A NP_001363344.1:p.Arg69His missense NM_001376417.1:c.206G>A NP_001363346.1:p.Arg69His missense NM_001376418.1:c.206G>A NP_001363347.1:p.Arg69His missense NM_001376419.1:c.206G>A NP_001363348.1:p.Arg69His missense NM_001376420.1:c.206G>A NP_001363349.1:p.Arg69His missense NM_001376421.1:c.206G>A NP_001363350.1:p.Arg69His missense NM_001376422.1:c.206G>A NP_001363351.1:p.Arg69His missense NM_001376423.1:c.206G>A NP_001363352.1:p.Arg69His missense NM_001376424.1:c.206G>A NP_001363353.1:p.Arg69His missense NM_001376425.1:c.206G>A NP_001363354.1:p.Arg69His missense NM_001376426.1:c.206G>A NP_001363355.1:p.Arg69His missense NM_001376427.1:c.206G>A NP_001363356.1:p.Arg69His missense NM_001376428.1:c.206G>A NP_001363357.1:p.Arg69His missense NM_001376429.1:c.206G>A NP_001363358.1:p.Arg69His missense NM_001376430.1:c.206G>A NP_001363359.1:p.Arg69His missense NM_001376431.1:c.206G>A NP_001363360.1:p.Arg69His missense NM_001376432.1:c.206G>A NP_001363361.1:p.Arg69His missense NM_001376433.1:c.206G>A NP_001363362.1:p.Arg69His missense NM_001376434.1:c.206G>A NP_001363363.1:p.Arg69His missense NM_001376435.1:c.206G>A NP_001363364.1:p.Arg69His missense NM_001376436.1:c.206G>A NP_001363365.1:p.Arg69His missense NM_001376437.1:c.206G>A NP_001363366.1:p.Arg69His missense NM_001376438.1:c.206G>A NP_001363367.1:p.Arg69His missense NM_001376439.1:c.206G>A NP_001363368.1:p.Arg69His missense NM_001376440.1:c.206G>A NP_001363369.1:p.Arg69His missense NM_001376441.1:c.206G>A NP_001363370.1:p.Arg69His missense NM_001376442.1:c.206G>A NP_001363371.1:p.Arg69His missense NM_001376443.1:c.206G>A NP_001363372.1:p.Arg69His missense NM_001376444.1:c.206G>A NP_001363373.1:p.Arg69His missense NM_001376445.1:c.206G>A NP_001363374.1:p.Arg69His missense NM_001376446.1:c.206G>A NP_001363375.1:p.Arg69His missense NM_001376447.1:c.206G>A NP_001363376.1:p.Arg69His missense NM_001376448.1:c.206G>A NP_001363377.1:p.Arg69His missense NM_001376449.1:c.206G>A NP_001363378.1:p.Arg69His missense NM_001376450.1:c.206G>A NP_001363379.1:p.Arg69His missense NM_001376451.1:c.287G>A NP_001363380.1:p.Arg96His missense NM_001376452.1:c.206G>A NP_001363381.1:p.Arg69His missense NM_001376453.1:c.287G>A NP_001363382.1:p.Arg96His missense NM_001376454.1:c.206G>A NP_001363383.1:p.Arg69His missense NM_001376455.1:c.287G>A NP_001363384.1:p.Arg96His missense NM_001376456.1:c.206G>A NP_001363385.1:p.Arg69His missense NM_001376457.1:c.206G>A NP_001363386.1:p.Arg69His missense NM_001376458.1:c.206G>A NP_001363387.1:p.Arg69His missense NM_001376459.1:c.206G>A NP_001363388.1:p.Arg69His missense NM_001376460.1:c.206G>A NP_001363389.1:p.Arg69His missense NM_001376461.1:c.206G>A NP_001363390.1:p.Arg69His missense NM_001376462.1:c.206G>A NP_001363391.1:p.Arg69His missense NM_001376463.1:c.-38G>A 5 prime UTR NM_006560.4:c.206G>A NP_006551.1:p.Arg69His missense NM_198700.3:c.206G>A NP_941989.1:p.Arg69His missense NC_000011.10:g.47487214C>T NC_000011.9:g.47508766C>T - Protein change
- R69H, R96H
- Other names
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- Canonical SPDI
- NC_000011.10:47487213: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
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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
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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CELF1 | - | - |
GRCh38 GRCh37 |
16 | 27 |
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. |
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Uncertain significance (1) |
criteria provided, single submitter
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Mar 24, 2023 | RCV004301400.1 |
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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Uncertain significance
(Mar 24, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003958834.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The c.287G>A (p.R96H) alteration is located in exon 5 (coding exon 3) of the CELF1 gene. This alteration results from a G to A substitution … (more)
The c.287G>A (p.R96H) alteration is located in exon 5 (coding exon 3) of the CELF1 gene. This alteration results from a G to A substitution at nucleotide position 287, causing the arginine (R) at amino acid position 96 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
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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
HelpThere 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 this variant ...
HelpRecord last updated Sep 01, 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.