PTK2: BP4, BP7
ClinVar Genomic variation as it relates to human health
NM_001352702.2(PTK2):c.2292G>A (p.Pro764=)
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.
Likely benign
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.2292G>A (p.Pro764=)
Variation ID: 2658869 Accession: VCV002658869.10
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 140706179 (GRCh38) [ NCBI UCSC ] 8: 141716278 (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 20, 2023 Oct 20, 2024 Jul 1, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352702.2:c.2292G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Pro764= synonymous NM_001199649.2:c.2169G>A NP_001186578.1:p.Pro723= synonymous NM_001316342.2:c.1869G>A NP_001303271.1:p.Pro623= synonymous NM_001352694.2:c.2169G>A NP_001339623.1:p.Pro723= synonymous NM_001352695.2:c.2271G>A NP_001339624.1:p.Pro757= synonymous NM_001352696.2:c.1869G>A NP_001339625.1:p.Pro623= synonymous NM_001352697.2:c.2424G>A NP_001339626.1:p.Pro808= synonymous NM_001352698.2:c.2331G>A NP_001339627.1:p.Pro777= synonymous NM_001352699.2:c.2292G>A NP_001339628.1:p.Pro764= synonymous NM_001352700.2:c.2292G>A NP_001339629.1:p.Pro764= synonymous NM_001352701.2:c.2292G>A NP_001339630.1:p.Pro764= synonymous NM_001352703.2:c.2292G>A NP_001339632.1:p.Pro764= synonymous NM_001352704.2:c.2271G>A NP_001339633.1:p.Pro757= synonymous NM_001352705.2:c.2247G>A NP_001339634.1:p.Pro749= synonymous NM_001352706.2:c.2208G>A NP_001339635.1:p.Pro736= synonymous NM_001352707.2:c.2208G>A NP_001339636.1:p.Pro736= synonymous NM_001352708.2:c.2208G>A NP_001339637.1:p.Pro736= synonymous NM_001352709.2:c.2208G>A NP_001339638.1:p.Pro736= synonymous NM_001352710.2:c.2208G>A NP_001339639.1:p.Pro736= synonymous NM_001352711.2:c.2205G>A NP_001339640.1:p.Pro735= synonymous NM_001352712.2:c.2292G>A NP_001339641.1:p.Pro764= synonymous NM_001352713.2:c.2190G>A NP_001339642.1:p.Pro730= synonymous NM_001352714.2:c.2190G>A NP_001339643.1:p.Pro730= synonymous NM_001352715.2:c.2187G>A NP_001339644.1:p.Pro729= synonymous NM_001352716.2:c.2184G>A NP_001339645.1:p.Pro728= synonymous NM_001352717.2:c.2187G>A NP_001339646.1:p.Pro729= synonymous NM_001352718.2:c.2169G>A NP_001339647.1:p.Pro723= synonymous NM_001352719.2:c.2169G>A NP_001339648.1:p.Pro723= synonymous NM_001352720.2:c.2169G>A NP_001339649.1:p.Pro723= synonymous NM_001352721.2:c.2208G>A NP_001339650.1:p.Pro736= synonymous NM_001352722.2:c.2208G>A NP_001339651.1:p.Pro736= synonymous NM_001352723.2:c.2208G>A NP_001339652.1:p.Pro736= synonymous NM_001352724.2:c.2208G>A NP_001339653.1:p.Pro736= synonymous NM_001352725.2:c.2169G>A NP_001339654.1:p.Pro723= synonymous NM_001352726.2:c.2100G>A NP_001339655.1:p.Pro700= synonymous NM_001352727.2:c.2208G>A NP_001339656.1:p.Pro736= synonymous NM_001352728.2:c.2061G>A NP_001339657.1:p.Pro687= synonymous NM_001352729.2:c.2100G>A NP_001339658.1:p.Pro700= synonymous NM_001352730.2:c.1953G>A NP_001339659.1:p.Pro651= synonymous NM_001352731.2:c.1953G>A NP_001339660.1:p.Pro651= synonymous NM_001352732.2:c.1953G>A NP_001339661.1:p.Pro651= synonymous NM_001352733.2:c.1932G>A NP_001339662.1:p.Pro644= synonymous NM_001352734.2:c.1953G>A NP_001339663.1:p.Pro651= synonymous NM_001352735.2:c.1890G>A NP_001339664.1:p.Pro630= synonymous NM_001352736.2:c.1884G>A NP_001339665.1:p.Pro628= synonymous NM_001352737.2:c.1932G>A NP_001339666.1:p.Pro644= synonymous NM_001352738.2:c.1869G>A NP_001339667.1:p.Pro623= synonymous NM_001352739.2:c.1851G>A NP_001339668.1:p.Pro617= synonymous NM_001352740.2:c.1848G>A NP_001339669.1:p.Pro616= synonymous NM_001352741.2:c.1830G>A NP_001339670.1:p.Pro610= synonymous NM_001352742.2:c.1806G>A NP_001339671.1:p.Pro602= synonymous NM_001352743.2:c.1869G>A NP_001339672.1:p.Pro623= synonymous NM_001352744.2:c.1761G>A NP_001339673.1:p.Pro587= synonymous NM_001352745.2:c.1743G>A NP_001339674.1:p.Pro581= synonymous NM_001352746.2:c.1698G>A NP_001339675.1:p.Pro566= synonymous NM_001352747.2:c.747G>A NP_001339676.1:p.Pro249= synonymous NM_001352749.2:c.99G>A NP_001339678.1:p.Pro33= synonymous NM_001352750.2:c.99G>A NP_001339679.1:p.Pro33= synonymous NM_001352751.2:c.99G>A NP_001339680.1:p.Pro33= synonymous NM_001352752.2:c.99G>A NP_001339681.1:p.Pro33= synonymous NM_001387584.1:c.1830G>A NP_001374513.1:p.Pro610= synonymous NM_001387585.1:c.2169G>A NP_001374514.1:p.Pro723= synonymous NM_001387586.1:c.2169G>A NP_001374515.1:p.Pro723= synonymous NM_001387587.1:c.2169G>A NP_001374516.1:p.Pro723= synonymous NM_001387590.1:c.1722G>A NP_001374519.1:p.Pro574= synonymous NM_001387591.1:c.1830G>A NP_001374520.1:p.Pro610= synonymous NM_001387592.1:c.1227G>A NP_001374521.1:p.Pro409= synonymous NM_001387603.1:c.1830G>A NP_001374532.1:p.Pro610= synonymous NM_001387604.1:c.1227G>A NP_001374533.1:p.Pro409= synonymous NM_001387605.1:c.1830G>A NP_001374534.1:p.Pro610= synonymous NM_001387606.1:c.1851G>A NP_001374535.1:p.Pro617= synonymous NM_001387607.1:c.1869G>A NP_001374536.1:p.Pro623= synonymous NM_001387608.1:c.1830G>A NP_001374537.1:p.Pro610= synonymous NM_001387609.1:c.1830G>A NP_001374538.1:p.Pro610= synonymous NM_001387610.1:c.1647G>A NP_001374539.1:p.Pro549= synonymous NM_001387611.1:c.1848G>A NP_001374540.1:p.Pro616= synonymous NM_001387612.1:c.1830G>A NP_001374541.1:p.Pro610= synonymous NM_001387613.1:c.1830G>A NP_001374542.1:p.Pro610= synonymous NM_001387614.1:c.2169G>A NP_001374543.1:p.Pro723= synonymous NM_001387615.1:c.2100G>A NP_001374544.1:p.Pro700= synonymous NM_001387616.1:c.1227G>A NP_001374545.1:p.Pro409= synonymous NM_001387617.1:c.1227G>A NP_001374546.1:p.Pro409= synonymous NM_001387618.1:c.1830G>A NP_001374547.1:p.Pro610= synonymous NM_001387619.1:c.2061G>A NP_001374548.1:p.Pro687= synonymous NM_001387620.1:c.1869G>A NP_001374549.1:p.Pro623= synonymous NM_001387621.1:c.1227G>A NP_001374550.1:p.Pro409= synonymous NM_001387622.1:c.2187G>A NP_001374551.1:p.Pro729= synonymous NM_001387623.1:c.1830G>A NP_001374552.1:p.Pro610= synonymous NM_001387624.1:c.2184G>A NP_001374553.1:p.Pro728= synonymous NM_001387625.1:c.2169G>A NP_001374554.1:p.Pro723= synonymous NM_001387627.1:c.2187G>A NP_001374556.1:p.Pro729= synonymous NM_001387628.1:c.2169G>A NP_001374557.1:p.Pro723= synonymous NM_001387629.1:c.1245G>A NP_001374558.1:p.Pro415= synonymous NM_001387630.1:c.1647G>A NP_001374559.1:p.Pro549= synonymous NM_001387631.1:c.2184G>A NP_001374560.1:p.Pro728= synonymous NM_001387632.1:c.2169G>A NP_001374561.1:p.Pro723= synonymous NM_001387633.1:c.2190G>A NP_001374562.1:p.Pro730= synonymous NM_001387634.1:c.2187G>A NP_001374563.1:p.Pro729= synonymous NM_001387635.1:c.1722G>A NP_001374564.1:p.Pro574= synonymous NM_001387636.1:c.2169G>A NP_001374565.1:p.Pro723= synonymous NM_001387637.1:c.2169G>A NP_001374566.1:p.Pro723= synonymous NM_001387638.1:c.2169G>A NP_001374567.1:p.Pro723= synonymous NM_001387639.1:c.2208G>A NP_001374568.1:p.Pro736= synonymous NM_001387640.1:c.2292G>A NP_001374569.1:p.Pro764= synonymous NM_001387641.1:c.2208G>A NP_001374570.1:p.Pro736= synonymous NM_001387642.1:c.2169G>A NP_001374571.1:p.Pro723= synonymous NM_001387643.1:c.2301G>A NP_001374572.1:p.Pro767= synonymous NM_001387644.1:c.2310G>A NP_001374573.1:p.Pro770= synonymous NM_001387645.1:c.2169G>A NP_001374574.1:p.Pro723= synonymous NM_001387646.1:c.2301G>A NP_001374575.1:p.Pro767= synonymous NM_001387647.1:c.2169G>A NP_001374576.1:p.Pro723= synonymous NM_001387648.1:c.2301G>A NP_001374577.1:p.Pro767= synonymous NM_001387649.1:c.2340G>A NP_001374578.1:p.Pro780= synonymous NM_001387650.1:c.2301G>A NP_001374579.1:p.Pro767= synonymous NM_001387652.1:c.1830G>A NP_001374581.1:p.Pro610= synonymous NM_001387653.1:c.2061G>A NP_001374582.1:p.Pro687= synonymous NM_001387654.1:c.1830G>A NP_001374583.1:p.Pro610= synonymous NM_001387655.1:c.2169G>A NP_001374584.1:p.Pro723= synonymous NM_001387656.1:c.2169G>A NP_001374585.1:p.Pro723= synonymous NM_001387657.1:c.2169G>A NP_001374586.1:p.Pro723= synonymous NM_001387658.1:c.2169G>A NP_001374587.1:p.Pro723= synonymous NM_001387659.1:c.2169G>A NP_001374588.1:p.Pro723= synonymous NM_001387660.1:c.2301G>A NP_001374589.1:p.Pro767= synonymous NM_001387661.1:c.2301G>A NP_001374590.1:p.Pro767= synonymous NM_001387662.1:c.2301G>A NP_001374591.1:p.Pro767= synonymous NM_005607.5:c.2235G>A NP_005598.3:p.Pro745= synonymous NM_153831.4:c.2169G>A NP_722560.1:p.Pro723= synonymous NR_148036.2:n.2459G>A non-coding transcript variant NR_148037.2:n.2490G>A non-coding transcript variant NR_148038.2:n.2208G>A non-coding transcript variant NR_148039.2:n.2100G>A non-coding transcript variant NR_170671.1:n.2080G>A non-coding transcript variant NR_170672.1:n.2247G>A non-coding transcript variant NR_170673.1:n.2359G>A non-coding transcript variant NC_000008.11:g.140706179C>T NC_000008.10:g.141716278C>T NG_029467.2:g.300135G>A - Protein change
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- Other names
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- Canonical SPDI
- NC_000008.11:140706178: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
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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
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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
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Likely benign (1) |
criteria provided, single submitter
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Jul 1, 2023 | RCV003440694.10 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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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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Likely benign
(Jul 01, 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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CeGaT Center for Human Genetics Tuebingen
Accession: SCV004163322.10
First in ClinVar: Nov 20, 2023 Last updated: Oct 20, 2024 |
Comment:
PTK2: BP4, BP7
Number of individuals with the variant: 1
|
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:
PTK2: BP4, BP7
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 Oct 20, 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.