ClinVar Genomic variation as it relates to human health
NM_002576.5(PAK1):c.1226del (p.Gly409fs)
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.1226del (p.Gly409fs)
Variation ID: 3061513 Accession: VCV003061513.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 11q13.5 11: 77336273 (GRCh38) [ NCBI UCSC ] 11: 77047318 (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 Mar 17, 2024 Mar 16, 2024 Jan 5, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_002576.5:c.1226del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_002567.3:p.Gly409fs frameshift NM_001128620.2:c.1226del NP_001122092.1:p.Gly409fs frameshift NM_001376268.1:c.1226del NP_001363197.1:p.Gly409fs frameshift NM_001376269.1:c.1226del NP_001363198.1:p.Gly409fs frameshift NM_001376270.1:c.1226del NP_001363199.1:p.Gly409fs frameshift NM_001376271.1:c.1226del NP_001363200.1:p.Gly409fs frameshift NM_001376272.1:c.1247del NP_001363201.1:p.Gly416fs frameshift NM_001376273.1:c.1226del NP_001363202.1:p.Gly409fs frameshift NM_001376274.1:c.1226del NP_001363203.1:p.Gly409fs frameshift NM_001376275.1:c.1226del NP_001363204.1:p.Gly409fs frameshift NM_001376276.1:c.1226del NP_001363205.1:p.Gly409fs frameshift NM_001376277.1:c.1226del NP_001363206.1:p.Gly409fs frameshift NM_001376278.1:c.1226del NP_001363207.1:p.Gly409fs frameshift NM_001376279.1:c.1226del NP_001363208.1:p.Gly409fs frameshift NM_001376280.1:c.1226del NP_001363209.1:p.Gly409fs frameshift NM_001376281.1:c.1226del NP_001363210.1:p.Gly409fs frameshift NM_001376282.1:c.1226del NP_001363211.1:p.Gly409fs frameshift NM_001376283.1:c.1226del NP_001363212.1:p.Gly409fs frameshift NM_001376284.1:c.1226del NP_001363213.1:p.Gly409fs frameshift NM_001376285.1:c.1226del NP_001363214.1:p.Gly409fs frameshift NM_001376286.1:c.1226del NP_001363215.1:p.Gly409fs frameshift NM_001376287.1:c.1226del NP_001363216.1:p.Gly409fs frameshift NM_001376288.1:c.1226del NP_001363217.1:p.Gly409fs frameshift NM_001376289.1:c.1226del NP_001363218.1:p.Gly409fs frameshift NM_001376290.1:c.1117-14del intron variant NM_001376291.1:c.1117-14del intron variant NM_001376292.1:c.1226del NP_001363221.1:p.Gly409fs frameshift NM_001376293.1:c.1226del NP_001363222.1:p.Gly409fs frameshift NM_001376294.1:c.1217del NP_001363223.1:p.Gly406fs frameshift NM_001376295.1:c.1049del NP_001363224.1:p.Gly350fs frameshift NM_001376301.1:c.977del NP_001363230.1:p.Gly326fs frameshift NM_001376302.1:c.932del NP_001363231.1:p.Gly311fs frameshift NM_001376303.1:c.938del NP_001363232.1:p.Gly313fs frameshift NM_001376304.1:c.932del NP_001363233.1:p.Gly311fs frameshift NM_001376305.1:c.932del NP_001363234.1:p.Gly311fs frameshift NR_164797.1:n.1442del non-coding transcript variant NR_164798.1:n.1445del non-coding transcript variant NC_000011.10:g.77336274del NC_000011.9:g.77047319del NG_029900.2:g.142791del NG_029900.3:g.198736del - Protein change
- G311fs, G313fs, G326fs, G350fs, G406fs, G409fs, G416fs
- Other names
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- Canonical SPDI
- NC_000011.10:77336272:CC: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
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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 |
80 | 89 |
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
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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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PAK1-related disorder
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Uncertain significance (1) |
criteria provided, single submitter
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Jan 5, 2024 | RCV003983521.1 |
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
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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
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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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Uncertain significance
(Jan 05, 2024)
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criteria provided, single submitter
Method: clinical testing
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PAK1-related condition
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV004799943.1
First in ClinVar: Mar 16, 2024 Last updated: Mar 16, 2024 |
Comment:
The PAK1 c.1226delG variant is predicted to result in a frameshift and premature protein termination (p.Gly409Aspfs*6). To our knowledge, this variant has not been reported … (more)
The PAK1 c.1226delG variant is predicted to result in a frameshift and premature protein termination (p.Gly409Aspfs*6). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. To date, there is no truncating variants of this gene documented in Human Gene Mutation Database and the role of this type of variants is unknown. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. (less)
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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 May 19, 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.