The c.2451C>A (p.D817E) alteration is located in exon 26 (coding exon 25) of the PTK2 gene. This alteration results from a C to A substitution at nucleotide position 2451, causing the aspartic acid (D) at amino acid position 817 to be replaced by a glutamic acid (E). 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.2508C>A (p.Asp836Glu)
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.
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.2508C>A (p.Asp836Glu)
Variation ID: 2341501 Accession: VCV002341501.3
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 140701005 (GRCh38) [ NCBI UCSC ] 8: 141711104 (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 Feb 8, 2023 Aug 11, 2024 May 6, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352702.2:c.2508C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Asp836Glu missense NM_001199649.2:c.2385C>A NP_001186578.1:p.Asp795Glu missense NM_001316342.2:c.2085C>A NP_001303271.1:p.Asp695Glu missense NM_001352694.2:c.2385C>A NP_001339623.1:p.Asp795Glu missense NM_001352695.2:c.2487C>A NP_001339624.1:p.Asp829Glu missense NM_001352696.2:c.2085C>A NP_001339625.1:p.Asp695Glu missense NM_001352697.2:c.2640C>A NP_001339626.1:p.Asp880Glu missense NM_001352698.2:c.2547C>A NP_001339627.1:p.Asp849Glu missense NM_001352699.2:c.2508C>A NP_001339628.1:p.Asp836Glu missense NM_001352700.2:c.2508C>A NP_001339629.1:p.Asp836Glu missense NM_001352701.2:c.2508C>A NP_001339630.1:p.Asp836Glu missense NM_001352703.2:c.2508C>A NP_001339632.1:p.Asp836Glu missense NM_001352704.2:c.2487C>A NP_001339633.1:p.Asp829Glu missense NM_001352705.2:c.2463C>A NP_001339634.1:p.Asp821Glu missense NM_001352706.2:c.2424C>A NP_001339635.1:p.Asp808Glu missense NM_001352707.2:c.2424C>A NP_001339636.1:p.Asp808Glu missense NM_001352708.2:c.2424C>A NP_001339637.1:p.Asp808Glu missense NM_001352709.2:c.2424C>A NP_001339638.1:p.Asp808Glu missense NM_001352710.2:c.2424C>A NP_001339639.1:p.Asp808Glu missense NM_001352711.2:c.2421C>A NP_001339640.1:p.Asp807Glu missense NM_001352712.2:c.2508C>A NP_001339641.1:p.Asp836Glu missense NM_001352713.2:c.2406C>A NP_001339642.1:p.Asp802Glu missense NM_001352714.2:c.2406C>A NP_001339643.1:p.Asp802Glu missense NM_001352715.2:c.2403C>A NP_001339644.1:p.Asp801Glu missense NM_001352716.2:c.2400C>A NP_001339645.1:p.Asp800Glu missense NM_001352717.2:c.2403C>A NP_001339646.1:p.Asp801Glu missense NM_001352718.2:c.2385C>A NP_001339647.1:p.Asp795Glu missense NM_001352719.2:c.2385C>A NP_001339648.1:p.Asp795Glu missense NM_001352720.2:c.2385C>A NP_001339649.1:p.Asp795Glu missense NM_001352721.2:c.2424C>A NP_001339650.1:p.Asp808Glu missense NM_001352722.2:c.2424C>A NP_001339651.1:p.Asp808Glu missense NM_001352723.2:c.2424C>A NP_001339652.1:p.Asp808Glu missense NM_001352724.2:c.2424C>A NP_001339653.1:p.Asp808Glu missense NM_001352725.2:c.2385C>A NP_001339654.1:p.Asp795Glu missense NM_001352726.2:c.2316C>A NP_001339655.1:p.Asp772Glu missense NM_001352727.2:c.2424C>A NP_001339656.1:p.Asp808Glu missense NM_001352728.2:c.2277C>A NP_001339657.1:p.Asp759Glu missense NM_001352729.2:c.2316C>A NP_001339658.1:p.Asp772Glu missense NM_001352730.2:c.2169C>A NP_001339659.1:p.Asp723Glu missense NM_001352731.2:c.2169C>A NP_001339660.1:p.Asp723Glu missense NM_001352732.2:c.2169C>A NP_001339661.1:p.Asp723Glu missense NM_001352733.2:c.2148C>A NP_001339662.1:p.Asp716Glu missense NM_001352734.2:c.2169C>A NP_001339663.1:p.Asp723Glu missense NM_001352735.2:c.2106C>A NP_001339664.1:p.Asp702Glu missense NM_001352736.2:c.2100C>A NP_001339665.1:p.Asp700Glu missense NM_001352737.2:c.2148C>A NP_001339666.1:p.Asp716Glu missense NM_001352738.2:c.2085C>A NP_001339667.1:p.Asp695Glu missense NM_001352739.2:c.2067C>A NP_001339668.1:p.Asp689Glu missense NM_001352740.2:c.2064C>A NP_001339669.1:p.Asp688Glu missense NM_001352741.2:c.2046C>A NP_001339670.1:p.Asp682Glu missense NM_001352742.2:c.2022C>A NP_001339671.1:p.Asp674Glu missense NM_001352743.2:c.2085C>A NP_001339672.1:p.Asp695Glu missense NM_001352744.2:c.1977C>A NP_001339673.1:p.Asp659Glu missense NM_001352745.2:c.1959C>A NP_001339674.1:p.Asp653Glu missense NM_001352746.2:c.1914C>A NP_001339675.1:p.Asp638Glu missense NM_001352747.2:c.963C>A NP_001339676.1:p.Asp321Glu missense NM_001352749.2:c.315C>A NP_001339678.1:p.Asp105Glu missense NM_001352750.2:c.315C>A NP_001339679.1:p.Asp105Glu missense NM_001352751.2:c.315C>A NP_001339680.1:p.Asp105Glu missense NM_001352752.2:c.315C>A NP_001339681.1:p.Asp105Glu missense NM_001387584.1:c.2046C>A NP_001374513.1:p.Asp682Glu missense NM_001387585.1:c.2385C>A NP_001374514.1:p.Asp795Glu missense NM_001387586.1:c.2385C>A NP_001374515.1:p.Asp795Glu missense NM_001387587.1:c.2385C>A NP_001374516.1:p.Asp795Glu missense NM_001387590.1:c.1938C>A NP_001374519.1:p.Asp646Glu missense NM_001387591.1:c.2046C>A NP_001374520.1:p.Asp682Glu missense NM_001387592.1:c.1443C>A NP_001374521.1:p.Asp481Glu missense NM_001387603.1:c.2046C>A NP_001374532.1:p.Asp682Glu missense NM_001387604.1:c.1443C>A NP_001374533.1:p.Asp481Glu missense NM_001387605.1:c.2046C>A NP_001374534.1:p.Asp682Glu missense NM_001387606.1:c.2067C>A NP_001374535.1:p.Asp689Glu missense NM_001387607.1:c.2085C>A NP_001374536.1:p.Asp695Glu missense NM_001387608.1:c.2046C>A NP_001374537.1:p.Asp682Glu missense NM_001387609.1:c.2046C>A NP_001374538.1:p.Asp682Glu missense NM_001387610.1:c.1863C>A NP_001374539.1:p.Asp621Glu missense NM_001387611.1:c.2064C>A NP_001374540.1:p.Asp688Glu missense NM_001387612.1:c.2046C>A NP_001374541.1:p.Asp682Glu missense NM_001387613.1:c.2046C>A NP_001374542.1:p.Asp682Glu missense NM_001387614.1:c.2385C>A NP_001374543.1:p.Asp795Glu missense NM_001387615.1:c.2316C>A NP_001374544.1:p.Asp772Glu missense NM_001387616.1:c.1443C>A NP_001374545.1:p.Asp481Glu missense NM_001387617.1:c.1443C>A NP_001374546.1:p.Asp481Glu missense NM_001387618.1:c.2046C>A NP_001374547.1:p.Asp682Glu missense NM_001387619.1:c.2277C>A NP_001374548.1:p.Asp759Glu missense NM_001387620.1:c.2085C>A NP_001374549.1:p.Asp695Glu missense NM_001387621.1:c.1443C>A NP_001374550.1:p.Asp481Glu missense NM_001387622.1:c.2403C>A NP_001374551.1:p.Asp801Glu missense NM_001387623.1:c.2046C>A NP_001374552.1:p.Asp682Glu missense NM_001387624.1:c.2400C>A NP_001374553.1:p.Asp800Glu missense NM_001387625.1:c.2385C>A NP_001374554.1:p.Asp795Glu missense NM_001387627.1:c.2403C>A NP_001374556.1:p.Asp801Glu missense NM_001387628.1:c.2385C>A NP_001374557.1:p.Asp795Glu missense NM_001387629.1:c.1461C>A NP_001374558.1:p.Asp487Glu missense NM_001387630.1:c.1863C>A NP_001374559.1:p.Asp621Glu missense NM_001387631.1:c.2400C>A NP_001374560.1:p.Asp800Glu missense NM_001387632.1:c.2385C>A NP_001374561.1:p.Asp795Glu missense NM_001387633.1:c.2406C>A NP_001374562.1:p.Asp802Glu missense NM_001387634.1:c.2403C>A NP_001374563.1:p.Asp801Glu missense NM_001387635.1:c.1938C>A NP_001374564.1:p.Asp646Glu missense NM_001387636.1:c.2385C>A NP_001374565.1:p.Asp795Glu missense NM_001387637.1:c.2385C>A NP_001374566.1:p.Asp795Glu missense NM_001387638.1:c.2385C>A NP_001374567.1:p.Asp795Glu missense NM_001387639.1:c.2424C>A NP_001374568.1:p.Asp808Glu missense NM_001387640.1:c.2508C>A NP_001374569.1:p.Asp836Glu missense NM_001387641.1:c.2424C>A NP_001374570.1:p.Asp808Glu missense NM_001387642.1:c.2385C>A NP_001374571.1:p.Asp795Glu missense NM_001387643.1:c.2517C>A NP_001374572.1:p.Asp839Glu missense NM_001387644.1:c.2526C>A NP_001374573.1:p.Asp842Glu missense NM_001387645.1:c.2385C>A NP_001374574.1:p.Asp795Glu missense NM_001387646.1:c.2517C>A NP_001374575.1:p.Asp839Glu missense NM_001387647.1:c.2385C>A NP_001374576.1:p.Asp795Glu missense NM_001387648.1:c.2517C>A NP_001374577.1:p.Asp839Glu missense NM_001387649.1:c.2556C>A NP_001374578.1:p.Asp852Glu missense NM_001387650.1:c.2517C>A NP_001374579.1:p.Asp839Glu missense NM_001387652.1:c.2046C>A NP_001374581.1:p.Asp682Glu missense NM_001387653.1:c.2277C>A NP_001374582.1:p.Asp759Glu missense NM_001387654.1:c.2046C>A NP_001374583.1:p.Asp682Glu missense NM_001387655.1:c.2385C>A NP_001374584.1:p.Asp795Glu missense NM_001387656.1:c.2385C>A NP_001374585.1:p.Asp795Glu missense NM_001387657.1:c.2385C>A NP_001374586.1:p.Asp795Glu missense NM_001387658.1:c.2385C>A NP_001374587.1:p.Asp795Glu missense NM_001387659.1:c.2385C>A NP_001374588.1:p.Asp795Glu missense NM_001387660.1:c.2517C>A NP_001374589.1:p.Asp839Glu missense NM_001387661.1:c.2517C>A NP_001374590.1:p.Asp839Glu missense NM_001387662.1:c.2517C>A NP_001374591.1:p.Asp839Glu missense NM_005607.5:c.2451C>A NP_005598.3:p.Asp817Glu missense NM_153831.4:c.2385C>A NP_722560.1:p.Asp795Glu missense NR_148036.2:n.2675C>A non-coding transcript variant NR_148037.2:n.2706C>A non-coding transcript variant NR_148038.2:n.2424C>A non-coding transcript variant NR_148039.2:n.2316C>A non-coding transcript variant NR_170671.1:n.2296C>A non-coding transcript variant NR_170672.1:n.2463C>A non-coding transcript variant NR_170673.1:n.2575C>A non-coding transcript variant NC_000008.11:g.140701005G>T NC_000008.10:g.141711104G>T NG_029467.2:g.305309C>A - Protein change
- D321E, D689E, D695E, D723E, D800E, D802E, D807E, D821E, D836E, D839E, D849E, D852E, D105E, D481E, D646E, D659E, D716E, D759E, D772E, D795E, D801E, D808E, D829E, D638E, D674E, D682E, D688E, D700E, D817E, D880E, D487E, D621E, D653E, D702E, D842E
- Other names
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- Canonical SPDI
- NC_000008.11:140701004:G: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
|
May 6, 2024 | RCV004183395.2 |
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
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
(May 06, 2024)
|
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: SCV003685201.3
First in ClinVar: Feb 07, 2023 Last updated: Aug 11, 2024 |
Comment:
The c.2451C>A (p.D817E) alteration is located in exon 26 (coding exon 25) of the PTK2 gene. This alteration results from a C to A substitution … (more)
The c.2451C>A (p.D817E) alteration is located in exon 26 (coding exon 25) of the PTK2 gene. This alteration results from a C to A substitution at nucleotide position 2451, causing the aspartic acid (D) at amino acid position 817 to be replaced by a glutamic acid (E). 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.2451C>A (p.D817E) alteration is located in exon 26 (coding exon 25) of the PTK2 gene. This alteration results from a C to A substitution at nucleotide position 2451, causing the aspartic acid (D) at amino acid position 817 to be replaced by a glutamic acid (E). 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.