The c.2431G>A (p.E811K) alteration is located in exon 25 (coding exon 24) of the PTK2 gene. This alteration results from a G to A substitution at nucleotide position 2431, causing the glutamic acid (E) at amino acid position 811 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001352702.2(PTK2):c.2488G>A (p.Glu830Lys)
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)
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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_001352702.2(PTK2):c.2488G>A (p.Glu830Lys)
Variation ID: 2569322 Accession: VCV002569322.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 140702572 (GRCh38) [ NCBI UCSC ] 8: 141712671 (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 Jul 8, 2023 May 1, 2024 May 17, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352702.2:c.2488G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Glu830Lys missense NM_001199649.2:c.2365G>A NP_001186578.1:p.Glu789Lys missense NM_001316342.2:c.2065G>A NP_001303271.1:p.Glu689Lys missense NM_001352694.2:c.2365G>A NP_001339623.1:p.Glu789Lys missense NM_001352695.2:c.2467G>A NP_001339624.1:p.Glu823Lys missense NM_001352696.2:c.2065G>A NP_001339625.1:p.Glu689Lys missense NM_001352697.2:c.2620G>A NP_001339626.1:p.Glu874Lys missense NM_001352698.2:c.2527G>A NP_001339627.1:p.Glu843Lys missense NM_001352699.2:c.2488G>A NP_001339628.1:p.Glu830Lys missense NM_001352700.2:c.2488G>A NP_001339629.1:p.Glu830Lys missense NM_001352701.2:c.2488G>A NP_001339630.1:p.Glu830Lys missense NM_001352703.2:c.2488G>A NP_001339632.1:p.Glu830Lys missense NM_001352704.2:c.2467G>A NP_001339633.1:p.Glu823Lys missense NM_001352705.2:c.2443G>A NP_001339634.1:p.Glu815Lys missense NM_001352706.2:c.2404G>A NP_001339635.1:p.Glu802Lys missense NM_001352707.2:c.2404G>A NP_001339636.1:p.Glu802Lys missense NM_001352708.2:c.2404G>A NP_001339637.1:p.Glu802Lys missense NM_001352709.2:c.2404G>A NP_001339638.1:p.Glu802Lys missense NM_001352710.2:c.2404G>A NP_001339639.1:p.Glu802Lys missense NM_001352711.2:c.2401G>A NP_001339640.1:p.Glu801Lys missense NM_001352712.2:c.2488G>A NP_001339641.1:p.Glu830Lys missense NM_001352713.2:c.2386G>A NP_001339642.1:p.Glu796Lys missense NM_001352714.2:c.2386G>A NP_001339643.1:p.Glu796Lys missense NM_001352715.2:c.2383G>A NP_001339644.1:p.Glu795Lys missense NM_001352716.2:c.2380G>A NP_001339645.1:p.Glu794Lys missense NM_001352717.2:c.2383G>A NP_001339646.1:p.Glu795Lys missense NM_001352718.2:c.2365G>A NP_001339647.1:p.Glu789Lys missense NM_001352719.2:c.2365G>A NP_001339648.1:p.Glu789Lys missense NM_001352720.2:c.2365G>A NP_001339649.1:p.Glu789Lys missense NM_001352721.2:c.2404G>A NP_001339650.1:p.Glu802Lys missense NM_001352722.2:c.2404G>A NP_001339651.1:p.Glu802Lys missense NM_001352723.2:c.2404G>A NP_001339652.1:p.Glu802Lys missense NM_001352724.2:c.2404G>A NP_001339653.1:p.Glu802Lys missense NM_001352725.2:c.2365G>A NP_001339654.1:p.Glu789Lys missense NM_001352726.2:c.2296G>A NP_001339655.1:p.Glu766Lys missense NM_001352727.2:c.2404G>A NP_001339656.1:p.Glu802Lys missense NM_001352728.2:c.2257G>A NP_001339657.1:p.Glu753Lys missense NM_001352729.2:c.2296G>A NP_001339658.1:p.Glu766Lys missense NM_001352730.2:c.2149G>A NP_001339659.1:p.Glu717Lys missense NM_001352731.2:c.2149G>A NP_001339660.1:p.Glu717Lys missense NM_001352732.2:c.2149G>A NP_001339661.1:p.Glu717Lys missense NM_001352733.2:c.2128G>A NP_001339662.1:p.Glu710Lys missense NM_001352734.2:c.2149G>A NP_001339663.1:p.Glu717Lys missense NM_001352735.2:c.2086G>A NP_001339664.1:p.Glu696Lys missense NM_001352736.2:c.2080G>A NP_001339665.1:p.Glu694Lys missense NM_001352737.2:c.2128G>A NP_001339666.1:p.Glu710Lys missense NM_001352738.2:c.2065G>A NP_001339667.1:p.Glu689Lys missense NM_001352739.2:c.2047G>A NP_001339668.1:p.Glu683Lys missense NM_001352740.2:c.2044G>A NP_001339669.1:p.Glu682Lys missense NM_001352741.2:c.2026G>A NP_001339670.1:p.Glu676Lys missense NM_001352742.2:c.2002G>A NP_001339671.1:p.Glu668Lys missense NM_001352743.2:c.2065G>A NP_001339672.1:p.Glu689Lys missense NM_001352744.2:c.1957G>A NP_001339673.1:p.Glu653Lys missense NM_001352745.2:c.1939G>A NP_001339674.1:p.Glu647Lys missense NM_001352746.2:c.1894G>A NP_001339675.1:p.Glu632Lys missense NM_001352747.2:c.943G>A NP_001339676.1:p.Glu315Lys missense NM_001352749.2:c.295G>A NP_001339678.1:p.Glu99Lys missense NM_001352750.2:c.295G>A NP_001339679.1:p.Glu99Lys missense NM_001352751.2:c.295G>A NP_001339680.1:p.Glu99Lys missense NM_001352752.2:c.295G>A NP_001339681.1:p.Glu99Lys missense NM_001387584.1:c.2026G>A NP_001374513.1:p.Glu676Lys missense NM_001387585.1:c.2365G>A NP_001374514.1:p.Glu789Lys missense NM_001387586.1:c.2365G>A NP_001374515.1:p.Glu789Lys missense NM_001387587.1:c.2365G>A NP_001374516.1:p.Glu789Lys missense NM_001387590.1:c.1918G>A NP_001374519.1:p.Glu640Lys missense NM_001387591.1:c.2026G>A NP_001374520.1:p.Glu676Lys missense NM_001387592.1:c.1423G>A NP_001374521.1:p.Glu475Lys missense NM_001387603.1:c.2026G>A NP_001374532.1:p.Glu676Lys missense NM_001387604.1:c.1423G>A NP_001374533.1:p.Glu475Lys missense NM_001387605.1:c.2026G>A NP_001374534.1:p.Glu676Lys missense NM_001387606.1:c.2047G>A NP_001374535.1:p.Glu683Lys missense NM_001387607.1:c.2065G>A NP_001374536.1:p.Glu689Lys missense NM_001387608.1:c.2026G>A NP_001374537.1:p.Glu676Lys missense NM_001387609.1:c.2026G>A NP_001374538.1:p.Glu676Lys missense NM_001387610.1:c.1843G>A NP_001374539.1:p.Glu615Lys missense NM_001387611.1:c.2044G>A NP_001374540.1:p.Glu682Lys missense NM_001387612.1:c.2026G>A NP_001374541.1:p.Glu676Lys missense NM_001387613.1:c.2026G>A NP_001374542.1:p.Glu676Lys missense NM_001387614.1:c.2365G>A NP_001374543.1:p.Glu789Lys missense NM_001387615.1:c.2296G>A NP_001374544.1:p.Glu766Lys missense NM_001387616.1:c.1423G>A NP_001374545.1:p.Glu475Lys missense NM_001387617.1:c.1423G>A NP_001374546.1:p.Glu475Lys missense NM_001387618.1:c.2026G>A NP_001374547.1:p.Glu676Lys missense NM_001387619.1:c.2257G>A NP_001374548.1:p.Glu753Lys missense NM_001387620.1:c.2065G>A NP_001374549.1:p.Glu689Lys missense NM_001387621.1:c.1423G>A NP_001374550.1:p.Glu475Lys missense NM_001387622.1:c.2383G>A NP_001374551.1:p.Glu795Lys missense NM_001387623.1:c.2026G>A NP_001374552.1:p.Glu676Lys missense NM_001387624.1:c.2380G>A NP_001374553.1:p.Glu794Lys missense NM_001387625.1:c.2365G>A NP_001374554.1:p.Glu789Lys missense NM_001387627.1:c.2383G>A NP_001374556.1:p.Glu795Lys missense NM_001387628.1:c.2365G>A NP_001374557.1:p.Glu789Lys missense NM_001387629.1:c.1441G>A NP_001374558.1:p.Glu481Lys missense NM_001387630.1:c.1843G>A NP_001374559.1:p.Glu615Lys missense NM_001387631.1:c.2380G>A NP_001374560.1:p.Glu794Lys missense NM_001387632.1:c.2365G>A NP_001374561.1:p.Glu789Lys missense NM_001387633.1:c.2386G>A NP_001374562.1:p.Glu796Lys missense NM_001387634.1:c.2383G>A NP_001374563.1:p.Glu795Lys missense NM_001387635.1:c.1918G>A NP_001374564.1:p.Glu640Lys missense NM_001387636.1:c.2365G>A NP_001374565.1:p.Glu789Lys missense NM_001387637.1:c.2365G>A NP_001374566.1:p.Glu789Lys missense NM_001387638.1:c.2365G>A NP_001374567.1:p.Glu789Lys missense NM_001387639.1:c.2404G>A NP_001374568.1:p.Glu802Lys missense NM_001387640.1:c.2488G>A NP_001374569.1:p.Glu830Lys missense NM_001387641.1:c.2404G>A NP_001374570.1:p.Glu802Lys missense NM_001387642.1:c.2365G>A NP_001374571.1:p.Glu789Lys missense NM_001387643.1:c.2497G>A NP_001374572.1:p.Glu833Lys missense NM_001387644.1:c.2506G>A NP_001374573.1:p.Glu836Lys missense NM_001387645.1:c.2365G>A NP_001374574.1:p.Glu789Lys missense NM_001387646.1:c.2497G>A NP_001374575.1:p.Glu833Lys missense NM_001387647.1:c.2365G>A NP_001374576.1:p.Glu789Lys missense NM_001387648.1:c.2497G>A NP_001374577.1:p.Glu833Lys missense NM_001387649.1:c.2536G>A NP_001374578.1:p.Glu846Lys missense NM_001387650.1:c.2497G>A NP_001374579.1:p.Glu833Lys missense NM_001387652.1:c.2026G>A NP_001374581.1:p.Glu676Lys missense NM_001387653.1:c.2257G>A NP_001374582.1:p.Glu753Lys missense NM_001387654.1:c.2026G>A NP_001374583.1:p.Glu676Lys missense NM_001387655.1:c.2365G>A NP_001374584.1:p.Glu789Lys missense NM_001387656.1:c.2365G>A NP_001374585.1:p.Glu789Lys missense NM_001387657.1:c.2365G>A NP_001374586.1:p.Glu789Lys missense NM_001387658.1:c.2365G>A NP_001374587.1:p.Glu789Lys missense NM_001387659.1:c.2365G>A NP_001374588.1:p.Glu789Lys missense NM_001387660.1:c.2497G>A NP_001374589.1:p.Glu833Lys missense NM_001387661.1:c.2497G>A NP_001374590.1:p.Glu833Lys missense NM_001387662.1:c.2497G>A NP_001374591.1:p.Glu833Lys missense NM_005607.5:c.2431G>A NP_005598.3:p.Glu811Lys missense NM_153831.4:c.2365G>A NP_722560.1:p.Glu789Lys missense NR_148036.2:n.2655G>A non-coding transcript variant NR_148037.2:n.2686G>A non-coding transcript variant NR_148038.2:n.2404G>A non-coding transcript variant NR_148039.2:n.2296G>A non-coding transcript variant NR_170671.1:n.2276G>A non-coding transcript variant NR_170672.1:n.2443G>A non-coding transcript variant NR_170673.1:n.2555G>A non-coding transcript variant NC_000008.11:g.140702572C>T NC_000008.10:g.141712671C>T NG_029467.2:g.303742G>A - Protein change
- E475K, E632K, E647K, E653K, E676K, E710K, E717K, E801K, E815K, E836K, E99K, E315K, E481K, E766K, E795K, E796K, E802K, E811K, E830K, E833K, E874K, E615K, E640K, E694K, E696K, E794K, E823K, E843K, E846K, E668K, E682K, E683K, E689K, E753K, E789K
- Other names
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- Canonical SPDI
- NC_000008.11:140702571:C: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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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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| PTK2 | - | - |
GRCh38 GRCh37 |
60 | 116 | |
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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May 17, 2023 | RCV004332921.1 |
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
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
(May 17, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV004009175.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The c.2431G>A (p.E811K) alteration is located in exon 25 (coding exon 24) of the PTK2 gene. This alteration results from a G to A substitution … (more)
The c.2431G>A (p.E811K) alteration is located in exon 25 (coding exon 24) of the PTK2 gene. This alteration results from a G to A substitution at nucleotide position 2431, causing the glutamic acid (E) at amino acid position 811 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (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:
The c.2431G>A (p.E811K) alteration is located in exon 25 (coding exon 24) of the PTK2 gene. This alteration results from a G to A substitution at nucleotide position 2431, causing the glutamic acid (E) at amino acid position 811 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
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.