ClinVar Genomic variation as it relates to human health
NM_002576.5(PAK1):c.724C>G (p.Gln242Glu)
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_002576.5(PAK1):c.724C>G (p.Gln242Glu)
Variation ID: 2503489 Accession: VCV002503489.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11q13.5 11: 77355716 (GRCh38) [ NCBI UCSC ] 11: 77066761 (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 Jun 4, 2023 Jun 3, 2023 Jun 1, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_002576.5:c.724C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_002567.3:p.Gln242Glu missense NM_001128620.2:c.724C>G NP_001122092.1:p.Gln242Glu missense NM_001376268.1:c.724C>G NP_001363197.1:p.Gln242Glu missense NM_001376269.1:c.724C>G NP_001363198.1:p.Gln242Glu missense NM_001376270.1:c.724C>G NP_001363199.1:p.Gln242Glu missense NM_001376271.1:c.724C>G NP_001363200.1:p.Gln242Glu missense NM_001376272.1:c.745C>G NP_001363201.1:p.Gln249Glu missense NM_001376273.1:c.724C>G NP_001363202.1:p.Gln242Glu missense NM_001376274.1:c.724C>G NP_001363203.1:p.Gln242Glu missense NM_001376275.1:c.724C>G NP_001363204.1:p.Gln242Glu missense NM_001376276.1:c.724C>G NP_001363205.1:p.Gln242Glu missense NM_001376277.1:c.724C>G NP_001363206.1:p.Gln242Glu missense NM_001376278.1:c.724C>G NP_001363207.1:p.Gln242Glu missense NM_001376279.1:c.724C>G NP_001363208.1:p.Gln242Glu missense NM_001376280.1:c.724C>G NP_001363209.1:p.Gln242Glu missense NM_001376281.1:c.724C>G NP_001363210.1:p.Gln242Glu missense NM_001376282.1:c.724C>G NP_001363211.1:p.Gln242Glu missense NM_001376283.1:c.724C>G NP_001363212.1:p.Gln242Glu missense NM_001376284.1:c.724C>G NP_001363213.1:p.Gln242Glu missense NM_001376285.1:c.724C>G NP_001363214.1:p.Gln242Glu missense NM_001376286.1:c.724C>G NP_001363215.1:p.Gln242Glu missense NM_001376287.1:c.724C>G NP_001363216.1:p.Gln242Glu missense NM_001376288.1:c.724C>G NP_001363217.1:p.Gln242Glu missense NM_001376289.1:c.724C>G NP_001363218.1:p.Gln242Glu missense NM_001376290.1:c.724C>G NP_001363219.1:p.Gln242Glu missense NM_001376291.1:c.724C>G NP_001363220.1:p.Gln242Glu missense NM_001376292.1:c.724C>G NP_001363221.1:p.Gln242Glu missense NM_001376293.1:c.724C>G NP_001363222.1:p.Gln242Glu missense NM_001376294.1:c.724C>G NP_001363223.1:p.Gln242Glu missense NM_001376295.1:c.724C>G NP_001363224.1:p.Gln242Glu missense NM_001376301.1:c.475C>G NP_001363230.1:p.Gln159Glu missense NM_001376302.1:c.430C>G NP_001363231.1:p.Gln144Glu missense NM_001376303.1:c.597+3182C>G intron variant NM_001376304.1:c.430C>G NP_001363233.1:p.Gln144Glu missense NM_001376305.1:c.430C>G NP_001363234.1:p.Gln144Glu missense NR_164797.1:n.940C>G non-coding transcript variant NR_164798.1:n.943C>G non-coding transcript variant NC_000011.10:g.77355716G>C NC_000011.9:g.77066761G>C NG_029900.2:g.123348C>G NG_029900.3:g.179293C>G - Protein change
- Q144E, Q159E, Q242E, Q249E
- Other names
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- Canonical SPDI
- NC_000011.10:77355715: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
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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
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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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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PAK1 | - | - |
GRCh38 GRCh37 |
82 | 91 |
Conditions - Germline
Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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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
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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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Jun 1, 2023 | RCV003230307.2 |
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
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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
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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
(Jun 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
(Unknown mechanism)
Affected status: yes
Allele origin:
germline
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Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
Accession: SCV003928003.1
First in ClinVar: Jun 03, 2023 Last updated: Jun 03, 2023 |
Comment:
This variant has been identified by standard clinical testing. inherited from an unaffected father Selected ACMG criteria: Likely benign (I):BS2;BP4;PM2
Number of individuals with the variant: 2
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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 this variant ...
HelpRecord last updated Jun 23, 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.