ClinVar Genomic variation as it relates to human health
NM_001352837.2(ST18):c.2834C>A (p.Ala945Glu)
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_001352837.2(ST18):c.2834C>A (p.Ala945Glu)
Variation ID: 725979 Accession: VCV000725979.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q11.23 8: 52118363 (GRCh38) [ NCBI UCSC ] 8: 53030923 (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 Dec 17, 2019 Jun 26, 2018 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352837.2:c.2834C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339766.1:p.Ala945Glu missense NM_001352826.2:c.2834C>A NP_001339755.1:p.Ala945Glu missense NM_001352827.2:c.2834C>A NP_001339756.1:p.Ala945Glu missense NM_001352828.2:c.2834C>A NP_001339757.1:p.Ala945Glu missense NM_001352829.2:c.2834C>A NP_001339758.1:p.Ala945Glu missense NM_001352830.2:c.2834C>A NP_001339759.1:p.Ala945Glu missense NM_001352831.2:c.2834C>A NP_001339760.1:p.Ala945Glu missense NM_001352832.2:c.2834C>A NP_001339761.1:p.Ala945Glu missense NM_001352833.2:c.2834C>A NP_001339762.1:p.Ala945Glu missense NM_001352834.2:c.2834C>A NP_001339763.1:p.Ala945Glu missense NM_001352835.2:c.2834C>A NP_001339764.1:p.Ala945Glu missense NM_001352836.2:c.2834C>A NP_001339765.1:p.Ala945Glu missense NM_001352838.2:c.2834C>A NP_001339767.1:p.Ala945Glu missense NM_001352839.2:c.2834C>A NP_001339768.1:p.Ala945Glu missense NM_001352840.2:c.2834C>A NP_001339769.1:p.Ala945Glu missense NM_001352841.2:c.2834C>A NP_001339770.1:p.Ala945Glu missense NM_001352842.2:c.2834C>A NP_001339771.1:p.Ala945Glu missense NM_001352843.2:c.2834C>A NP_001339772.1:p.Ala945Glu missense NM_001352844.2:c.2834C>A NP_001339773.1:p.Ala945Glu missense NM_001352845.2:c.2834C>A NP_001339774.1:p.Ala945Glu missense NM_001352846.2:c.2834C>A NP_001339775.1:p.Ala945Glu missense NM_001352847.2:c.2834C>A NP_001339776.1:p.Ala945Glu missense NM_001352848.2:c.2834C>A NP_001339777.1:p.Ala945Glu missense NM_001352849.2:c.2834C>A NP_001339778.1:p.Ala945Glu missense NM_001352850.2:c.2834C>A NP_001339779.1:p.Ala945Glu missense NM_001352851.2:c.2834C>A NP_001339780.1:p.Ala945Glu missense NM_001352852.2:c.2834C>A NP_001339781.1:p.Ala945Glu missense NM_001352853.2:c.2834C>A NP_001339782.1:p.Ala945Glu missense NM_001352854.2:c.2834C>A NP_001339783.1:p.Ala945Glu missense NM_001352855.2:c.2834C>A NP_001339784.1:p.Ala945Glu missense NM_001352856.2:c.2834C>A NP_001339785.1:p.Ala945Glu missense NM_001352857.2:c.2834C>A NP_001339786.1:p.Ala945Glu missense NM_001352858.2:c.2747C>A NP_001339787.1:p.Ala916Glu missense NM_001352859.2:c.2747C>A NP_001339788.1:p.Ala916Glu missense NM_001352860.2:c.2747C>A NP_001339789.1:p.Ala916Glu missense NM_001352861.2:c.2729C>A NP_001339790.1:p.Ala910Glu missense NM_001352862.2:c.2729C>A NP_001339791.1:p.Ala910Glu missense NM_001352863.2:c.2729C>A NP_001339792.1:p.Ala910Glu missense NM_001352864.2:c.2729C>A NP_001339793.1:p.Ala910Glu missense NM_001352865.2:c.2729C>A NP_001339794.1:p.Ala910Glu missense NM_001352866.2:c.2729C>A NP_001339795.1:p.Ala910Glu missense NM_001352867.2:c.2729C>A NP_001339796.1:p.Ala910Glu missense NM_001352868.2:c.2729C>A NP_001339797.1:p.Ala910Glu missense NM_001352869.2:c.2729C>A NP_001339798.1:p.Ala910Glu missense NM_001352870.2:c.2588C>A NP_001339799.1:p.Ala863Glu missense NM_001352871.2:c.2588C>A NP_001339800.1:p.Ala863Glu missense NM_001352872.2:c.2588C>A NP_001339801.1:p.Ala863Glu missense NM_001352873.2:c.2588C>A NP_001339802.1:p.Ala863Glu missense NM_001352874.2:c.2588C>A NP_001339803.1:p.Ala863Glu missense NM_001352875.2:c.2588C>A NP_001339804.1:p.Ala863Glu missense NM_001352876.2:c.1796C>A NP_001339805.1:p.Ala599Glu missense NM_001352877.2:c.1775C>A NP_001339806.1:p.Ala592Glu missense NM_001352878.2:c.1775C>A NP_001339807.1:p.Ala592Glu missense NM_014682.3:c.2834C>A NP_055497.1:p.Ala945Glu missense NC_000008.11:g.52118363G>T NC_000008.10:g.53030923G>T - Protein change
- A592E, A916E, A945E, A599E, A863E, A910E
- Other names
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- Canonical SPDI
- NC_000008.11:52118362:G: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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0.00080 (T)
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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 0.00078
1000 Genomes Project 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00252
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00331
The Genome Aggregation Database (gnomAD) 0.00342
- 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. |
|||
| ST18 | - | - |
GRCh38 GRCh37 |
66 | 95 | |
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. |
|---|---|---|---|---|
| Benign (1) |
criteria provided, single submitter
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Jun 26, 2018 | RCV000900128.4 |
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
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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Benign
(Jun 26, 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: SCV001044431.1
First in ClinVar: Dec 17, 2019 Last updated: Dec 17, 2019 |
|
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 rs117471862 ...
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.