The CELF4 c.1242G>C variant is predicted to result in the amino acid substitution p.Gln414His. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ClinVar Genomic variation as it relates to human health
NM_020180.4(CELF4):c.1242G>C (p.Gln414His)
Germline
Classification
Help
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.
(1)
Help
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.
Uncertain significance
1
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_020180.4(CELF4):c.1242G>C (p.Gln414His)
Variation ID: 3048187 Accession: VCV003048187.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 18q12.2 18: 37264681 (GRCh38) [ NCBI UCSC ] 18: 34844644 (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 17, 2024 Oct 8, 2024 Nov 6, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_020180.4:c.1242G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_064565.1:p.Gln414His missense NM_001025087.2:c.1239G>C NP_001020258.1:p.Gln413His missense NM_001025088.2:c.1236G>C NP_001020259.1:p.Gln412His missense NM_001025089.2:c.1212G>C NP_001020260.1:p.Gln404His missense NM_001330603.2:c.1236G>C NP_001317532.1:p.Gln412His missense NM_001353695.2:c.1206G>C NP_001340624.1:p.Gln402His missense NM_001353696.2:c.1239G>C NP_001340625.1:p.Gln413His missense NM_001353697.2:c.1209G>C NP_001340626.1:p.Gln403His missense NM_001353698.2:c.1239G>C NP_001340627.1:p.Gln413His missense NM_001353699.2:c.1206G>C NP_001340628.1:p.Gln402His missense NM_001353700.2:c.1209G>C NP_001340629.1:p.Gln403His missense NM_001353702.2:c.1233G>C NP_001340631.1:p.Gln411His missense NM_001353703.2:c.1212G>C NP_001340632.1:p.Gln404His missense NM_001353705.2:c.1203G>C NP_001340634.1:p.Gln401His missense NM_001353706.2:c.1206G>C NP_001340635.1:p.Gln402His missense NM_001353707.2:c.1209G>C NP_001340636.1:p.Gln403His missense NM_001353708.2:c.1242G>C NP_001340637.1:p.Gln414His missense NM_001353709.2:c.1209G>C NP_001340638.1:p.Gln403His missense NM_001353710.2:c.1206G>C NP_001340639.1:p.Gln402His missense NM_001353711.2:c.1203G>C NP_001340640.1:p.Gln401His missense NM_001353712.2:c.1230G>C NP_001340641.1:p.Gln410His missense NM_001353713.2:c.1209G>C NP_001340642.1:p.Gln403His missense NM_001353714.2:c.1203G>C NP_001340643.1:p.Gln401His missense NM_001353715.2:c.1212G>C NP_001340644.1:p.Gln404His missense NM_001353716.2:c.1233G>C NP_001340645.1:p.Gln411His missense NM_001353717.2:c.1212G>C NP_001340646.1:p.Gln404His missense NM_001353718.2:c.1233G>C NP_001340647.1:p.Gln411His missense NM_001353719.2:c.1209G>C NP_001340648.1:p.Gln403His missense NM_001353720.2:c.1206G>C NP_001340649.1:p.Gln402His missense NM_001353721.2:c.1206G>C NP_001340650.1:p.Gln402His missense NM_001353722.2:c.1203G>C NP_001340651.1:p.Gln401His missense NM_001353723.2:c.1239G>C NP_001340652.1:p.Gln413His missense NM_001353724.2:c.1236G>C NP_001340653.1:p.Gln412His missense NM_001353725.2:c.1203G>C NP_001340654.1:p.Gln401His missense NM_001353726.2:c.1209G>C NP_001340655.1:p.Gln403His missense NM_001353727.2:c.1206G>C NP_001340656.1:p.Gln402His missense NM_001353728.2:c.1206G>C NP_001340657.1:p.Gln402His missense NM_001353729.2:c.1236G>C NP_001340658.1:p.Gln412His missense NM_001353730.2:c.1236G>C NP_001340659.1:p.Gln412His missense NM_001353731.2:c.1239G>C NP_001340660.1:p.Gln413His missense NM_001353732.2:c.1206G>C NP_001340661.1:p.Gln402His missense NM_001353733.2:c.1200G>C NP_001340662.1:p.Gln400His missense NM_001353734.2:c.1242G>C NP_001340663.1:p.Gln414His missense NM_001353735.2:c.1209G>C NP_001340664.1:p.Gln403His missense NM_001353736.2:c.1236G>C NP_001340665.1:p.Gln412His missense NM_001353737.2:c.1233G>C NP_001340666.1:p.Gln411His missense NM_001353738.2:c.1236G>C NP_001340667.1:p.Gln412His missense NM_001353739.2:c.1203G>C NP_001340668.1:p.Gln401His missense NM_001353740.2:c.1242G>C NP_001340669.1:p.Gln414His missense NM_001353741.2:c.1209G>C NP_001340670.1:p.Gln403His missense NM_001353742.2:c.1236G>C NP_001340671.1:p.Gln412His missense NM_001353743.2:c.1239G>C NP_001340672.1:p.Gln413His missense NM_001353744.2:c.1239G>C NP_001340673.1:p.Gln413His missense NM_001353745.2:c.1236G>C NP_001340674.1:p.Gln412His missense NM_001353746.2:c.1239G>C NP_001340675.1:p.Gln413His missense NM_001353747.2:c.1236G>C NP_001340676.1:p.Gln412His missense NM_001353748.2:c.1209G>C NP_001340677.1:p.Gln403His missense NM_001353749.2:c.1239G>C NP_001340678.1:p.Gln413His missense NM_001353750.2:c.1206G>C NP_001340679.1:p.Gln402His missense NM_001353751.2:c.1239G>C NP_001340680.1:p.Gln413His missense NM_001353752.2:c.1209G>C NP_001340681.1:p.Gln403His missense NM_001353753.2:c.1206G>C NP_001340682.1:p.Gln402His missense NM_001353754.2:c.1236G>C NP_001340683.1:p.Gln412His missense NM_001353755.2:c.1206G>C NP_001340684.1:p.Gln402His missense NM_001353756.2:c.870G>C NP_001340685.1:p.Gln290His missense NM_001353757.2:c.843G>C NP_001340686.1:p.Gln281His missense NM_001353758.2:c.840G>C NP_001340687.1:p.Gln280His missense NM_001353759.2:c.840G>C NP_001340688.1:p.Gln280His missense NM_001353760.2:c.840G>C NP_001340689.1:p.Gln280His missense NM_001353761.2:c.867G>C NP_001340690.1:p.Gln289His missense NR_148518.2:n.1366G>C non-coding transcript variant NR_148519.2:n.1363G>C non-coding transcript variant NR_148520.2:n.1393G>C non-coding transcript variant NR_148521.2:n.1396G>C non-coding transcript variant NR_148522.2:n.1363G>C non-coding transcript variant NR_148523.2:n.1369G>C non-coding transcript variant NR_148524.2:n.1366G>C non-coding transcript variant NR_148525.2:n.1366G>C non-coding transcript variant NR_148526.2:n.1396G>C non-coding transcript variant NR_148527.2:n.1399G>C non-coding transcript variant NR_148528.2:n.1396G>C non-coding transcript variant NC_000018.10:g.37264681C>G NC_000018.9:g.34844644C>G - Protein change
- Q280H, Q281H, Q289H, Q290H, Q400H, Q401H, Q402H, Q403H, Q404H, Q410H, Q411H, Q412H, Q413H, Q414H
- Other names
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- Canonical SPDI
- NC_000018.10:37264680:C:G
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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
Help
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. |
|||
| 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
Help
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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CELF4-related disorder
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Uncertain significance (1) |
no assertion criteria provided
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Nov 6, 2023 | RCV003951985.2 |
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
Help
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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|---|---|---|---|---|---|
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Uncertain significance
(Nov 06, 2023)
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no assertion criteria provided
Method: clinical testing
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CELF4-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004758271.2
First in ClinVar: Mar 16, 2024 Last updated: Oct 08, 2024 |
Comment:
The CELF4 c.1242G>C variant is predicted to result in the amino acid substitution p.Gln414His. To our knowledge, this variant has not been reported in the … (more)
The CELF4 c.1242G>C variant is predicted to result in the amino acid substitution p.Gln414His. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
|
Comment:
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. |
Comment:
The CELF4 c.1242G>C variant is predicted to result in the amino acid substitution p.Gln414His. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
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 this variant ...
HelpRecord last updated Oct 13, 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.