ClinVar Genomic variation as it relates to human health
NM_001376376.1(CELF1):c.190G>A (p.Glu64Lys)
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
-
NM_001376376.1(CELF1):c.190G>A (p.Glu64Lys)
Variation ID: 2595751 Accession: VCV002595751.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 11p11.2 11: 47488906 (GRCh38) [ NCBI UCSC ] 11: 47510458 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Oct 28, 2023 May 1, 2024 Sep 12, 2023 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_001376376.1:c.190G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001363305.1:p.Glu64Lys missense NM_001025596.3:c.109G>A NP_001020767.1:p.Glu37Lys missense NM_001172639.2:c.190G>A NP_001166110.1:p.Glu64Lys missense NM_001172640.2:c.109G>A NP_001166111.1:p.Glu37Lys missense NM_001330272.2:c.190G>A NP_001317201.1:p.Glu64Lys missense NM_001376369.1:c.190G>A NP_001363298.1:p.Glu64Lys missense NM_001376370.1:c.190G>A NP_001363299.1:p.Glu64Lys missense NM_001376371.1:c.190G>A NP_001363300.1:p.Glu64Lys missense NM_001376372.1:c.190G>A NP_001363301.1:p.Glu64Lys missense NM_001376373.1:c.190G>A NP_001363302.1:p.Glu64Lys missense NM_001376374.1:c.190G>A NP_001363303.1:p.Glu64Lys missense NM_001376375.1:c.190G>A NP_001363304.1:p.Glu64Lys missense NM_001376377.1:c.190G>A NP_001363306.1:p.Glu64Lys missense NM_001376378.1:c.190G>A NP_001363307.1:p.Glu64Lys missense NM_001376379.1:c.190G>A NP_001363308.1:p.Glu64Lys missense NM_001376380.1:c.190G>A NP_001363309.1:p.Glu64Lys missense NM_001376381.1:c.190G>A NP_001363310.1:p.Glu64Lys missense NM_001376382.1:c.190G>A NP_001363311.1:p.Glu64Lys missense NM_001376383.1:c.190G>A NP_001363312.1:p.Glu64Lys missense NM_001376384.1:c.190G>A NP_001363313.1:p.Glu64Lys missense NM_001376385.1:c.190G>A NP_001363314.1:p.Glu64Lys missense NM_001376386.1:c.190G>A NP_001363315.1:p.Glu64Lys missense NM_001376387.1:c.190G>A NP_001363316.1:p.Glu64Lys missense NM_001376388.1:c.190G>A NP_001363317.1:p.Glu64Lys missense NM_001376389.1:c.190G>A NP_001363318.1:p.Glu64Lys missense NM_001376390.1:c.190G>A NP_001363319.1:p.Glu64Lys missense NM_001376391.1:c.190G>A NP_001363320.1:p.Glu64Lys missense NM_001376393.1:c.109G>A NP_001363322.1:p.Glu37Lys missense NM_001376395.1:c.109G>A NP_001363324.1:p.Glu37Lys missense NM_001376396.1:c.109G>A NP_001363325.1:p.Glu37Lys missense NM_001376397.1:c.109G>A NP_001363326.1:p.Glu37Lys missense NM_001376399.1:c.109G>A NP_001363328.1:p.Glu37Lys missense NM_001376406.1:c.109G>A NP_001363335.1:p.Glu37Lys missense NM_001376407.1:c.109G>A NP_001363336.1:p.Glu37Lys missense NM_001376408.1:c.109G>A NP_001363337.1:p.Glu37Lys missense NM_001376409.1:c.109G>A NP_001363338.1:p.Glu37Lys missense NM_001376410.1:c.109G>A NP_001363339.1:p.Glu37Lys missense NM_001376411.1:c.109G>A NP_001363340.1:p.Glu37Lys missense NM_001376412.1:c.109G>A NP_001363341.1:p.Glu37Lys missense NM_001376413.1:c.109G>A NP_001363342.1:p.Glu37Lys missense NM_001376414.1:c.109G>A NP_001363343.1:p.Glu37Lys missense NM_001376415.1:c.109G>A NP_001363344.1:p.Glu37Lys missense NM_001376417.1:c.109G>A NP_001363346.1:p.Glu37Lys missense NM_001376418.1:c.109G>A NP_001363347.1:p.Glu37Lys missense NM_001376419.1:c.109G>A NP_001363348.1:p.Glu37Lys missense NM_001376420.1:c.109G>A NP_001363349.1:p.Glu37Lys missense NM_001376421.1:c.109G>A NP_001363350.1:p.Glu37Lys missense NM_001376422.1:c.109G>A NP_001363351.1:p.Glu37Lys missense NM_001376423.1:c.109G>A NP_001363352.1:p.Glu37Lys missense NM_001376424.1:c.109G>A NP_001363353.1:p.Glu37Lys missense NM_001376425.1:c.109G>A NP_001363354.1:p.Glu37Lys missense NM_001376426.1:c.109G>A NP_001363355.1:p.Glu37Lys missense NM_001376427.1:c.109G>A NP_001363356.1:p.Glu37Lys missense NM_001376428.1:c.109G>A NP_001363357.1:p.Glu37Lys missense NM_001376429.1:c.109G>A NP_001363358.1:p.Glu37Lys missense NM_001376430.1:c.109G>A NP_001363359.1:p.Glu37Lys missense NM_001376431.1:c.109G>A NP_001363360.1:p.Glu37Lys missense NM_001376432.1:c.109G>A NP_001363361.1:p.Glu37Lys missense NM_001376433.1:c.109G>A NP_001363362.1:p.Glu37Lys missense NM_001376434.1:c.109G>A NP_001363363.1:p.Glu37Lys missense NM_001376435.1:c.109G>A NP_001363364.1:p.Glu37Lys missense NM_001376436.1:c.109G>A NP_001363365.1:p.Glu37Lys missense NM_001376437.1:c.109G>A NP_001363366.1:p.Glu37Lys missense NM_001376438.1:c.109G>A NP_001363367.1:p.Glu37Lys missense NM_001376439.1:c.109G>A NP_001363368.1:p.Glu37Lys missense NM_001376440.1:c.109G>A NP_001363369.1:p.Glu37Lys missense NM_001376441.1:c.109G>A NP_001363370.1:p.Glu37Lys missense NM_001376442.1:c.109G>A NP_001363371.1:p.Glu37Lys missense NM_001376443.1:c.109G>A NP_001363372.1:p.Glu37Lys missense NM_001376444.1:c.109G>A NP_001363373.1:p.Glu37Lys missense NM_001376445.1:c.109G>A NP_001363374.1:p.Glu37Lys missense NM_001376446.1:c.109G>A NP_001363375.1:p.Glu37Lys missense NM_001376447.1:c.109G>A NP_001363376.1:p.Glu37Lys missense NM_001376448.1:c.109G>A NP_001363377.1:p.Glu37Lys missense NM_001376449.1:c.109G>A NP_001363378.1:p.Glu37Lys missense NM_001376450.1:c.109G>A NP_001363379.1:p.Glu37Lys missense NM_001376451.1:c.190G>A NP_001363380.1:p.Glu64Lys missense NM_001376452.1:c.109G>A NP_001363381.1:p.Glu37Lys missense NM_001376453.1:c.190G>A NP_001363382.1:p.Glu64Lys missense NM_001376454.1:c.109G>A NP_001363383.1:p.Glu37Lys missense NM_001376455.1:c.190G>A NP_001363384.1:p.Glu64Lys missense NM_001376456.1:c.109G>A NP_001363385.1:p.Glu37Lys missense NM_001376457.1:c.109G>A NP_001363386.1:p.Glu37Lys missense NM_001376458.1:c.109G>A NP_001363387.1:p.Glu37Lys missense NM_001376459.1:c.109G>A NP_001363388.1:p.Glu37Lys missense NM_001376460.1:c.109G>A NP_001363389.1:p.Glu37Lys missense NM_001376461.1:c.109G>A NP_001363390.1:p.Glu37Lys missense NM_001376462.1:c.109G>A NP_001363391.1:p.Glu37Lys missense NM_001376463.1:c.-189G>A 5 prime UTR NM_006560.4:c.109G>A NP_006551.1:p.Glu37Lys missense NM_198700.3:c.109G>A NP_941989.1:p.Glu37Lys missense NC_000011.10:g.47488906C>T NC_000011.9:g.47510458C>T - Protein change
- E37K, E64K
- Other names
- -
- Canonical SPDI
- NC_000011.10:47488905:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
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.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- 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. |
|||
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
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. |
---|---|---|---|---|
Uncertain significance (1) |
criteria provided, single submitter
|
Sep 12, 2023 | RCV004335919.1 |
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
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. |
|
---|---|---|---|---|---|
Uncertain significance
(Sep 12, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV004064330.2
First in ClinVar: Oct 28, 2023 Last updated: May 01, 2024 |
Comment:
The c.190G>A (p.E64K) alteration is located in exon 4 (coding exon 2) of the CELF1 gene. This alteration results from a G to A substitution … (more)
The c.190G>A (p.E64K) alteration is located in exon 4 (coding exon 2) of the CELF1 gene. This alteration results from a G to A substitution at nucleotide position 190, causing the glutamic acid (E) at amino acid position 64 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
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.