ClinVar Genomic variation as it relates to human health
NM_014504.3(RABGEF1):c.1017G>C (p.Thr339=)
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_014504.3(RABGEF1):c.1017G>C (p.Thr339=)
Variation ID: 748400 Accession: VCV000748400.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 7q11.21 7: 66805336 (GRCh38) [ NCBI UCSC ] 7: 66270323 (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 May 17, 2018 - HGVS
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Nucleotide Protein Molecular
consequenceNM_014504.3:c.1017G>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_055319.1:p.Thr339= synonymous NM_001287060.2:c.441G>C NP_001273989.1:p.Thr147= synonymous NM_001287061.2:c.1059G>C NP_001273990.1:p.Thr353= synonymous NM_001287062.2:c.1017G>C NP_001273991.1:p.Thr339= synonymous NM_001367722.1:c.441G>C NP_001354651.1:p.Thr147= synonymous NM_001367723.1:c.441G>C NP_001354652.1:p.Thr147= synonymous NM_001367724.1:c.441G>C NP_001354653.1:p.Thr147= synonymous NM_001367725.1:c.1017G>C NP_001354654.1:p.Thr339= synonymous NM_001367726.1:c.1017G>C NP_001354655.1:p.Thr339= synonymous NM_001367727.1:c.1017G>C NP_001354656.1:p.Thr339= synonymous NM_001367728.1:c.1017G>C NP_001354657.1:p.Thr339= synonymous NM_001367729.1:c.1017G>C NP_001354658.1:p.Thr339= synonymous NM_001367730.1:c.1017G>C NP_001354659.1:p.Thr339= synonymous NM_001367731.1:c.1017G>C NP_001354660.1:p.Thr339= synonymous NM_001367732.1:c.1017G>C NP_001354661.1:p.Thr339= synonymous NM_001367733.1:c.1017G>C NP_001354662.1:p.Thr339= synonymous NM_001367734.1:c.1017G>C NP_001354663.1:p.Thr339= synonymous NM_001367735.1:c.1017G>C NP_001354664.1:p.Thr339= synonymous NM_001367736.1:c.1017G>C NP_001354665.1:p.Thr339= synonymous NM_001367737.1:c.1020G>C NP_001354666.1:p.Thr340= synonymous NM_001367738.1:c.1020G>C NP_001354667.1:p.Thr340= synonymous NM_001367739.1:c.1020G>C NP_001354668.1:p.Thr340= synonymous NM_001367740.1:c.1020G>C NP_001354669.1:p.Thr340= synonymous NM_001367741.1:c.1134G>C NP_001354670.1:p.Thr378= synonymous NM_001367742.1:c.1134G>C NP_001354671.1:p.Thr378= synonymous NM_001367743.1:c.1089G>C NP_001354672.1:p.Thr363= synonymous NM_001367744.1:c.1089G>C NP_001354673.1:p.Thr363= synonymous NM_001367745.1:c.519G>C NP_001354674.1:p.Thr173= synonymous NM_001367746.1:c.519G>C NP_001354675.1:p.Thr173= synonymous NM_001367747.1:c.519G>C NP_001354676.1:p.Thr173= synonymous NM_001367748.1:c.519G>C NP_001354677.1:p.Thr173= synonymous NM_001367749.1:c.396G>C NP_001354678.1:p.Thr132= synonymous NM_001367750.1:c.396G>C NP_001354679.1:p.Thr132= synonymous NM_001367751.1:c.396G>C NP_001354680.1:p.Thr132= synonymous NM_001367752.1:c.1020G>C NP_001354681.1:p.Thr340= synonymous NM_001367753.1:c.768G>C NP_001354682.1:p.Thr256= synonymous NM_001367754.1:c.1017G>C NP_001354683.1:p.Thr339= synonymous NM_001367755.1:c.1017G>C NP_001354684.1:p.Thr339= synonymous NM_001367756.1:c.786G>C NP_001354685.1:p.Thr262= synonymous NR_160287.1:n.1142G>C non-coding transcript variant NC_000007.14:g.66805336G>C NC_000007.13:g.66270323G>C - Protein change
- Other names
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- Canonical SPDI
- NC_000007.14:66805335:G:C
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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 | ||
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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
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
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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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RABGEF1 | - | - |
GRCh38 GRCh37 |
22 | 45 |
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. |
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Likely benign (1) |
criteria provided, single submitter
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May 17, 2018 | RCV000925187.3 |
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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Likely benign
(May 17, 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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Invitae
Accession: SCV001070720.1
First in ClinVar: Dec 17, 2019 Last updated: Dec 17, 2019 |
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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 rs753077071 ...
HelpRecord last updated Aug 24, 2022
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.