Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
ClinVar Genomic variation as it relates to human health
NM_002576.5(PAK1):c.284A>C (p.Glu95Ala)
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
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_002576.5(PAK1):c.284A>C (p.Glu95Ala)
Variation ID: 3370148 Accession: VCV003370148.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11q13.5 11: 77379901 (GRCh38) [ NCBI UCSC ] 11: 77090946 (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 Nov 3, 2024 Nov 3, 2024 Dec 21, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_002576.5:c.284A>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_002567.3:p.Glu95Ala missense NM_001128620.2:c.284A>C NP_001122092.1:p.Glu95Ala missense NM_001376268.1:c.284A>C NP_001363197.1:p.Glu95Ala missense NM_001376269.1:c.284A>C NP_001363198.1:p.Glu95Ala missense NM_001376270.1:c.284A>C NP_001363199.1:p.Glu95Ala missense NM_001376271.1:c.284A>C NP_001363200.1:p.Glu95Ala missense NM_001376272.1:c.284A>C NP_001363201.1:p.Glu95Ala missense NM_001376273.1:c.284A>C NP_001363202.1:p.Glu95Ala missense NM_001376274.1:c.284A>C NP_001363203.1:p.Glu95Ala missense NM_001376275.1:c.284A>C NP_001363204.1:p.Glu95Ala missense NM_001376276.1:c.284A>C NP_001363205.1:p.Glu95Ala missense NM_001376277.1:c.284A>C NP_001363206.1:p.Glu95Ala missense NM_001376278.1:c.284A>C NP_001363207.1:p.Glu95Ala missense NM_001376279.1:c.284A>C NP_001363208.1:p.Glu95Ala missense NM_001376280.1:c.284A>C NP_001363209.1:p.Glu95Ala missense NM_001376281.1:c.284A>C NP_001363210.1:p.Glu95Ala missense NM_001376282.1:c.284A>C NP_001363211.1:p.Glu95Ala missense NM_001376283.1:c.284A>C NP_001363212.1:p.Glu95Ala missense NM_001376284.1:c.284A>C NP_001363213.1:p.Glu95Ala missense NM_001376285.1:c.284A>C NP_001363214.1:p.Glu95Ala missense NM_001376286.1:c.284A>C NP_001363215.1:p.Glu95Ala missense NM_001376287.1:c.284A>C NP_001363216.1:p.Glu95Ala missense NM_001376288.1:c.284A>C NP_001363217.1:p.Glu95Ala missense NM_001376289.1:c.284A>C NP_001363218.1:p.Glu95Ala missense NM_001376290.1:c.284A>C NP_001363219.1:p.Glu95Ala missense NM_001376291.1:c.284A>C NP_001363220.1:p.Glu95Ala missense NM_001376292.1:c.284A>C NP_001363221.1:p.Glu95Ala missense NM_001376293.1:c.284A>C NP_001363222.1:p.Glu95Ala missense NM_001376294.1:c.284A>C NP_001363223.1:p.Glu95Ala missense NM_001376295.1:c.284A>C NP_001363224.1:p.Glu95Ala missense NM_001376301.1:c.191-5536A>C intron variant NM_001376302.1:c.-11A>C 5 prime UTR NM_001376303.1:c.284A>C NP_001363232.1:p.Glu95Ala missense NM_001376304.1:c.-3-513A>C intron variant NM_001376305.1:c.-11A>C 5 prime UTR NR_164797.1:n.500A>C non-coding transcript variant NR_164798.1:n.503A>C non-coding transcript variant NC_000011.10:g.77379901T>G NC_000011.9:g.77090946T>G NG_029900.2:g.99163A>C NG_029900.3:g.155108A>C - Protein change
- E95A
- Other names
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- Canonical SPDI
- NC_000011.10:77379900:T: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. |
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| PAK1 | - | - |
GRCh38 GRCh37 |
93 | 102 | |
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
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Dec 21, 2023 | RCV004774161.1 |
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. |
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Uncertain significance
(Dec 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV005383774.1
First in ClinVar: Nov 03, 2024 Last updated: Nov 03, 2024 |
Comment:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; … (more)
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge (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:
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
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 Nov 03, 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.