ClinVar Genomic variation as it relates to human health
NM_001352702.2(PTK2):c.1319C>T (p.Thr440Ile)
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_001352702.2(PTK2):c.1319C>T (p.Thr440Ile)
Variation ID: 3148986 Accession: VCV003148986.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 140764251 (GRCh38) [ NCBI UCSC ] 8: 141774350 (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 May 1, 2024 May 1, 2024 Oct 5, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001352702.2:c.1319C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Thr440Ile missense NM_001199649.2:c.1217C>T NP_001186578.1:p.Thr406Ile missense NM_001316342.2:c.896C>T NP_001303271.1:p.Thr299Ile missense NM_001352694.2:c.1217C>T NP_001339623.1:p.Thr406Ile missense NM_001352695.2:c.1319C>T NP_001339624.1:p.Thr440Ile missense NM_001352696.2:c.896C>T NP_001339625.1:p.Thr299Ile missense NM_001352697.2:c.1451C>T NP_001339626.1:p.Thr484Ile missense NM_001352698.2:c.1358C>T NP_001339627.1:p.Thr453Ile missense NM_001352699.2:c.1319C>T NP_001339628.1:p.Thr440Ile missense NM_001352700.2:c.1319C>T NP_001339629.1:p.Thr440Ile missense NM_001352701.2:c.1319C>T NP_001339630.1:p.Thr440Ile missense NM_001352703.2:c.1319C>T NP_001339632.1:p.Thr440Ile missense NM_001352704.2:c.1319C>T NP_001339633.1:p.Thr440Ile missense NM_001352705.2:c.1274C>T NP_001339634.1:p.Thr425Ile missense NM_001352706.2:c.1235C>T NP_001339635.1:p.Thr412Ile missense NM_001352707.2:c.1235C>T NP_001339636.1:p.Thr412Ile missense NM_001352708.2:c.1235C>T NP_001339637.1:p.Thr412Ile missense NM_001352709.2:c.1235C>T NP_001339638.1:p.Thr412Ile missense NM_001352710.2:c.1235C>T NP_001339639.1:p.Thr412Ile missense NM_001352711.2:c.1232C>T NP_001339640.1:p.Thr411Ile missense NM_001352712.2:c.1319C>T NP_001339641.1:p.Thr440Ile missense NM_001352713.2:c.1217C>T NP_001339642.1:p.Thr406Ile missense NM_001352714.2:c.1217C>T NP_001339643.1:p.Thr406Ile missense NM_001352715.2:c.1235C>T NP_001339644.1:p.Thr412Ile missense NM_001352716.2:c.1211C>T NP_001339645.1:p.Thr404Ile missense NM_001352717.2:c.1235C>T NP_001339646.1:p.Thr412Ile missense NM_001352718.2:c.1217C>T NP_001339647.1:p.Thr406Ile missense NM_001352719.2:c.1217C>T NP_001339648.1:p.Thr406Ile missense NM_001352720.2:c.1217C>T NP_001339649.1:p.Thr406Ile missense NM_001352721.2:c.1235C>T NP_001339650.1:p.Thr412Ile missense NM_001352722.2:c.1235C>T NP_001339651.1:p.Thr412Ile missense NM_001352723.2:c.1235C>T NP_001339652.1:p.Thr412Ile missense NM_001352724.2:c.1235C>T NP_001339653.1:p.Thr412Ile missense NM_001352725.2:c.1217C>T NP_001339654.1:p.Thr406Ile missense NM_001352726.2:c.1127C>T NP_001339655.1:p.Thr376Ile missense NM_001352727.2:c.1235C>T NP_001339656.1:p.Thr412Ile missense NM_001352728.2:c.1109C>T NP_001339657.1:p.Thr370Ile missense NM_001352729.2:c.1127C>T NP_001339658.1:p.Thr376Ile missense NM_001352730.2:c.980C>T NP_001339659.1:p.Thr327Ile missense NM_001352731.2:c.980C>T NP_001339660.1:p.Thr327Ile missense NM_001352732.2:c.980C>T NP_001339661.1:p.Thr327Ile missense NM_001352733.2:c.980C>T NP_001339662.1:p.Thr327Ile missense NM_001352734.2:c.980C>T NP_001339663.1:p.Thr327Ile missense NM_001352735.2:c.917C>T NP_001339664.1:p.Thr306Ile missense NM_001352736.2:c.932C>T NP_001339665.1:p.Thr311Ile missense NM_001352737.2:c.980C>T NP_001339666.1:p.Thr327Ile missense NM_001352738.2:c.896C>T NP_001339667.1:p.Thr299Ile missense NM_001352739.2:c.878C>T NP_001339668.1:p.Thr293Ile missense NM_001352740.2:c.896C>T NP_001339669.1:p.Thr299Ile missense NM_001352741.2:c.878C>T NP_001339670.1:p.Thr293Ile missense NM_001352742.2:c.833C>T NP_001339671.1:p.Thr278Ile missense NM_001352743.2:c.896C>T NP_001339672.1:p.Thr299Ile missense NM_001352744.2:c.788C>T NP_001339673.1:p.Thr263Ile missense NM_001352745.2:c.770C>T NP_001339674.1:p.Thr257Ile missense NM_001352746.2:c.725C>T NP_001339675.1:p.Thr242Ile missense NM_001352747.2:c.-405C>T 5 prime UTR NM_001352748.2:c.1235C>T NP_001339677.1:p.Thr412Ile missense NM_001387584.1:c.878C>T NP_001374513.1:p.Thr293Ile missense NM_001387585.1:c.1217C>T NP_001374514.1:p.Thr406Ile missense NM_001387586.1:c.1217C>T NP_001374515.1:p.Thr406Ile missense NM_001387587.1:c.1217C>T NP_001374516.1:p.Thr406Ile missense NM_001387590.1:c.770C>T NP_001374519.1:p.Thr257Ile missense NM_001387591.1:c.878C>T NP_001374520.1:p.Thr293Ile missense NM_001387592.1:c.275C>T NP_001374521.1:p.Thr92Ile missense NM_001387603.1:c.878C>T NP_001374532.1:p.Thr293Ile missense NM_001387604.1:c.275C>T NP_001374533.1:p.Thr92Ile missense NM_001387605.1:c.878C>T NP_001374534.1:p.Thr293Ile missense NM_001387606.1:c.878C>T NP_001374535.1:p.Thr293Ile missense NM_001387607.1:c.896C>T NP_001374536.1:p.Thr299Ile missense NM_001387608.1:c.878C>T NP_001374537.1:p.Thr293Ile missense NM_001387609.1:c.878C>T NP_001374538.1:p.Thr293Ile missense NM_001387610.1:c.695C>T NP_001374539.1:p.Thr232Ile missense NM_001387611.1:c.896C>T NP_001374540.1:p.Thr299Ile missense NM_001387612.1:c.878C>T NP_001374541.1:p.Thr293Ile missense NM_001387613.1:c.878C>T NP_001374542.1:p.Thr293Ile missense NM_001387614.1:c.1217C>T NP_001374543.1:p.Thr406Ile missense NM_001387615.1:c.1127C>T NP_001374544.1:p.Thr376Ile missense NM_001387616.1:c.275C>T NP_001374545.1:p.Thr92Ile missense NM_001387617.1:c.275C>T NP_001374546.1:p.Thr92Ile missense NM_001387618.1:c.878C>T NP_001374547.1:p.Thr293Ile missense NM_001387619.1:c.1109C>T NP_001374548.1:p.Thr370Ile missense NM_001387620.1:c.896C>T NP_001374549.1:p.Thr299Ile missense NM_001387621.1:c.275C>T NP_001374550.1:p.Thr92Ile missense NM_001387622.1:c.1235C>T NP_001374551.1:p.Thr412Ile missense NM_001387623.1:c.878C>T NP_001374552.1:p.Thr293Ile missense NM_001387624.1:c.1211C>T NP_001374553.1:p.Thr404Ile missense NM_001387625.1:c.1217C>T NP_001374554.1:p.Thr406Ile missense NM_001387627.1:c.1235C>T NP_001374556.1:p.Thr412Ile missense NM_001387628.1:c.1217C>T NP_001374557.1:p.Thr406Ile missense NM_001387629.1:c.293C>T NP_001374558.1:p.Thr98Ile missense NM_001387630.1:c.695C>T NP_001374559.1:p.Thr232Ile missense NM_001387631.1:c.1211C>T NP_001374560.1:p.Thr404Ile missense NM_001387632.1:c.1217C>T NP_001374561.1:p.Thr406Ile missense NM_001387633.1:c.1217C>T NP_001374562.1:p.Thr406Ile missense NM_001387634.1:c.1235C>T NP_001374563.1:p.Thr412Ile missense NM_001387635.1:c.770C>T NP_001374564.1:p.Thr257Ile missense NM_001387636.1:c.1217C>T NP_001374565.1:p.Thr406Ile missense NM_001387637.1:c.1217C>T NP_001374566.1:p.Thr406Ile missense NM_001387638.1:c.1217C>T NP_001374567.1:p.Thr406Ile missense NM_001387639.1:c.1235C>T NP_001374568.1:p.Thr412Ile missense NM_001387640.1:c.1319C>T NP_001374569.1:p.Thr440Ile missense NM_001387641.1:c.1256C>T NP_001374570.1:p.Thr419Ile missense NM_001387642.1:c.1217C>T NP_001374571.1:p.Thr406Ile missense NM_001387643.1:c.1349C>T NP_001374572.1:p.Thr450Ile missense NM_001387644.1:c.1358C>T NP_001374573.1:p.Thr453Ile missense NM_001387645.1:c.1217C>T NP_001374574.1:p.Thr406Ile missense NM_001387646.1:c.1349C>T NP_001374575.1:p.Thr450Ile missense NM_001387647.1:c.1217C>T NP_001374576.1:p.Thr406Ile missense NM_001387648.1:c.1349C>T NP_001374577.1:p.Thr450Ile missense NM_001387649.1:c.1367C>T NP_001374578.1:p.Thr456Ile missense NM_001387650.1:c.1349C>T NP_001374579.1:p.Thr450Ile missense NM_001387652.1:c.878C>T NP_001374581.1:p.Thr293Ile missense NM_001387653.1:c.1109C>T NP_001374582.1:p.Thr370Ile missense NM_001387654.1:c.878C>T NP_001374583.1:p.Thr293Ile missense NM_001387655.1:c.1217C>T NP_001374584.1:p.Thr406Ile missense NM_001387656.1:c.1217C>T NP_001374585.1:p.Thr406Ile missense NM_001387657.1:c.1217C>T NP_001374586.1:p.Thr406Ile missense NM_001387658.1:c.1217C>T NP_001374587.1:p.Thr406Ile missense NM_001387659.1:c.1217C>T NP_001374588.1:p.Thr406Ile missense NM_001387660.1:c.1349C>T NP_001374589.1:p.Thr450Ile missense NM_001387661.1:c.1349C>T NP_001374590.1:p.Thr450Ile missense NM_001387662.1:c.1349C>T NP_001374591.1:p.Thr450Ile missense NM_005607.5:c.1283C>T NP_005598.3:p.Thr428Ile missense NM_153831.4:c.1217C>T NP_722560.1:p.Thr406Ile missense NR_148036.2:n.1598C>T non-coding transcript variant NR_148037.2:n.1629C>T non-coding transcript variant NR_148038.2:n.1347C>T non-coding transcript variant NR_148039.2:n.1239C>T non-coding transcript variant NR_170671.1:n.1240C>T non-coding transcript variant NR_170672.1:n.1407C>T non-coding transcript variant NR_170673.1:n.1407C>T non-coding transcript variant NC_000008.11:g.140764251G>A NC_000008.10:g.141774350G>A NG_029467.2:g.242063C>T - Protein change
- T232I, T293I, T376I, T425I, T92I, T257I, T263I, T311I, T406I, T411I, T453I, T278I, T404I, T419I, T450I, T456I, T484I, T242I, T299I, T306I, T327I, T370I, T412I, T428I, T440I, T98I
- Other names
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- Canonical SPDI
- NC_000008.11:140764250:G:A
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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
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 |
55 | 111 |
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. |
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Uncertain significance (1) |
criteria provided, single submitter
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Oct 5, 2023 | RCV004442881.1 |
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
(Oct 05, 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: SCV004936552.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.1283C>T (p.T428I) alteration is located in exon 15 (coding exon 14) of the PTK2 gene. This alteration results from a C to T substitution … (more)
The c.1283C>T (p.T428I) alteration is located in exon 15 (coding exon 14) of the PTK2 gene. This alteration results from a C to T substitution at nucleotide position 1283, causing the threonine (T) at amino acid position 428 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (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 08, 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.