The c.2537G>A (p.R846H) alteration is located in exon 26 (coding exon 25) of the PTK2 gene. This alteration results from a G to A substitution at nucleotide position 2537, causing the arginine (R) at amino acid position 846 to be replaced by a histidine (H). 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.2594G>A (p.Arg865His)
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.2594G>A (p.Arg865His)
Variation ID: 3311337 Accession: VCV003311337.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 140700919 (GRCh38) [ NCBI UCSC ] 8: 141711018 (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 Aug 11, 2024 Aug 11, 2024 Apr 4, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352702.2:c.2594G>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Arg865His missense NM_001199649.2:c.2471G>A NP_001186578.1:p.Arg824His missense NM_001316342.2:c.2171G>A NP_001303271.1:p.Arg724His missense NM_001352694.2:c.2471G>A NP_001339623.1:p.Arg824His missense NM_001352695.2:c.2573G>A NP_001339624.1:p.Arg858His missense NM_001352696.2:c.2171G>A NP_001339625.1:p.Arg724His missense NM_001352697.2:c.2726G>A NP_001339626.1:p.Arg909His missense NM_001352698.2:c.2633G>A NP_001339627.1:p.Arg878His missense NM_001352699.2:c.2594G>A NP_001339628.1:p.Arg865His missense NM_001352700.2:c.2594G>A NP_001339629.1:p.Arg865His missense NM_001352701.2:c.2594G>A NP_001339630.1:p.Arg865His missense NM_001352703.2:c.2594G>A NP_001339632.1:p.Arg865His missense NM_001352704.2:c.2573G>A NP_001339633.1:p.Arg858His missense NM_001352705.2:c.2549G>A NP_001339634.1:p.Arg850His missense NM_001352706.2:c.2510G>A NP_001339635.1:p.Arg837His missense NM_001352707.2:c.2510G>A NP_001339636.1:p.Arg837His missense NM_001352708.2:c.2510G>A NP_001339637.1:p.Arg837His missense NM_001352709.2:c.2510G>A NP_001339638.1:p.Arg837His missense NM_001352710.2:c.2510G>A NP_001339639.1:p.Arg837His missense NM_001352711.2:c.2507G>A NP_001339640.1:p.Arg836His missense NM_001352712.2:c.2594G>A NP_001339641.1:p.Arg865His missense NM_001352713.2:c.2492G>A NP_001339642.1:p.Arg831His missense NM_001352714.2:c.2492G>A NP_001339643.1:p.Arg831His missense NM_001352715.2:c.2489G>A NP_001339644.1:p.Arg830His missense NM_001352716.2:c.2486G>A NP_001339645.1:p.Arg829His missense NM_001352717.2:c.2489G>A NP_001339646.1:p.Arg830His missense NM_001352718.2:c.2471G>A NP_001339647.1:p.Arg824His missense NM_001352719.2:c.2471G>A NP_001339648.1:p.Arg824His missense NM_001352720.2:c.2471G>A NP_001339649.1:p.Arg824His missense NM_001352721.2:c.2510G>A NP_001339650.1:p.Arg837His missense NM_001352722.2:c.2510G>A NP_001339651.1:p.Arg837His missense NM_001352723.2:c.2510G>A NP_001339652.1:p.Arg837His missense NM_001352724.2:c.2510G>A NP_001339653.1:p.Arg837His missense NM_001352725.2:c.2471G>A NP_001339654.1:p.Arg824His missense NM_001352726.2:c.2402G>A NP_001339655.1:p.Arg801His missense NM_001352727.2:c.2510G>A NP_001339656.1:p.Arg837His missense NM_001352728.2:c.2363G>A NP_001339657.1:p.Arg788His missense NM_001352729.2:c.2402G>A NP_001339658.1:p.Arg801His missense NM_001352730.2:c.2255G>A NP_001339659.1:p.Arg752His missense NM_001352731.2:c.2255G>A NP_001339660.1:p.Arg752His missense NM_001352732.2:c.2255G>A NP_001339661.1:p.Arg752His missense NM_001352733.2:c.2234G>A NP_001339662.1:p.Arg745His missense NM_001352734.2:c.2255G>A NP_001339663.1:p.Arg752His missense NM_001352735.2:c.2192G>A NP_001339664.1:p.Arg731His missense NM_001352736.2:c.2186G>A NP_001339665.1:p.Arg729His missense NM_001352737.2:c.2234G>A NP_001339666.1:p.Arg745His missense NM_001352738.2:c.2171G>A NP_001339667.1:p.Arg724His missense NM_001352739.2:c.2153G>A NP_001339668.1:p.Arg718His missense NM_001352740.2:c.2150G>A NP_001339669.1:p.Arg717His missense NM_001352741.2:c.2132G>A NP_001339670.1:p.Arg711His missense NM_001352742.2:c.2108G>A NP_001339671.1:p.Arg703His missense NM_001352743.2:c.2171G>A NP_001339672.1:p.Arg724His missense NM_001352744.2:c.2063G>A NP_001339673.1:p.Arg688His missense NM_001352745.2:c.2045G>A NP_001339674.1:p.Arg682His missense NM_001352746.2:c.2000G>A NP_001339675.1:p.Arg667His missense NM_001352747.2:c.1049G>A NP_001339676.1:p.Arg350His missense NM_001352749.2:c.401G>A NP_001339678.1:p.Arg134His missense NM_001352750.2:c.401G>A NP_001339679.1:p.Arg134His missense NM_001352751.2:c.401G>A NP_001339680.1:p.Arg134His missense NM_001352752.2:c.401G>A NP_001339681.1:p.Arg134His missense NM_001387584.1:c.2132G>A NP_001374513.1:p.Arg711His missense NM_001387585.1:c.2471G>A NP_001374514.1:p.Arg824His missense NM_001387586.1:c.2471G>A NP_001374515.1:p.Arg824His missense NM_001387587.1:c.2471G>A NP_001374516.1:p.Arg824His missense NM_001387590.1:c.2024G>A NP_001374519.1:p.Arg675His missense NM_001387591.1:c.2132G>A NP_001374520.1:p.Arg711His missense NM_001387592.1:c.1529G>A NP_001374521.1:p.Arg510His missense NM_001387603.1:c.2132G>A NP_001374532.1:p.Arg711His missense NM_001387604.1:c.1529G>A NP_001374533.1:p.Arg510His missense NM_001387605.1:c.2132G>A NP_001374534.1:p.Arg711His missense NM_001387606.1:c.2153G>A NP_001374535.1:p.Arg718His missense NM_001387607.1:c.2171G>A NP_001374536.1:p.Arg724His missense NM_001387608.1:c.2132G>A NP_001374537.1:p.Arg711His missense NM_001387609.1:c.2132G>A NP_001374538.1:p.Arg711His missense NM_001387610.1:c.1949G>A NP_001374539.1:p.Arg650His missense NM_001387611.1:c.2150G>A NP_001374540.1:p.Arg717His missense NM_001387612.1:c.2132G>A NP_001374541.1:p.Arg711His missense NM_001387613.1:c.2132G>A NP_001374542.1:p.Arg711His missense NM_001387614.1:c.2471G>A NP_001374543.1:p.Arg824His missense NM_001387615.1:c.2402G>A NP_001374544.1:p.Arg801His missense NM_001387616.1:c.1529G>A NP_001374545.1:p.Arg510His missense NM_001387617.1:c.1529G>A NP_001374546.1:p.Arg510His missense NM_001387618.1:c.2132G>A NP_001374547.1:p.Arg711His missense NM_001387619.1:c.2363G>A NP_001374548.1:p.Arg788His missense NM_001387620.1:c.2171G>A NP_001374549.1:p.Arg724His missense NM_001387621.1:c.1529G>A NP_001374550.1:p.Arg510His missense NM_001387622.1:c.2489G>A NP_001374551.1:p.Arg830His missense NM_001387623.1:c.2132G>A NP_001374552.1:p.Arg711His missense NM_001387624.1:c.2486G>A NP_001374553.1:p.Arg829His missense NM_001387625.1:c.2471G>A NP_001374554.1:p.Arg824His missense NM_001387627.1:c.2489G>A NP_001374556.1:p.Arg830His missense NM_001387628.1:c.2471G>A NP_001374557.1:p.Arg824His missense NM_001387629.1:c.1547G>A NP_001374558.1:p.Arg516His missense NM_001387630.1:c.1949G>A NP_001374559.1:p.Arg650His missense NM_001387631.1:c.2486G>A NP_001374560.1:p.Arg829His missense NM_001387632.1:c.2471G>A NP_001374561.1:p.Arg824His missense NM_001387633.1:c.2492G>A NP_001374562.1:p.Arg831His missense NM_001387634.1:c.2489G>A NP_001374563.1:p.Arg830His missense NM_001387635.1:c.2024G>A NP_001374564.1:p.Arg675His missense NM_001387636.1:c.2471G>A NP_001374565.1:p.Arg824His missense NM_001387637.1:c.2471G>A NP_001374566.1:p.Arg824His missense NM_001387638.1:c.2471G>A NP_001374567.1:p.Arg824His missense NM_001387639.1:c.2510G>A NP_001374568.1:p.Arg837His missense NM_001387640.1:c.2594G>A NP_001374569.1:p.Arg865His missense NM_001387641.1:c.2510G>A NP_001374570.1:p.Arg837His missense NM_001387642.1:c.2471G>A NP_001374571.1:p.Arg824His missense NM_001387643.1:c.2603G>A NP_001374572.1:p.Arg868His missense NM_001387644.1:c.2612G>A NP_001374573.1:p.Arg871His missense NM_001387645.1:c.2471G>A NP_001374574.1:p.Arg824His missense NM_001387646.1:c.2603G>A NP_001374575.1:p.Arg868His missense NM_001387647.1:c.2471G>A NP_001374576.1:p.Arg824His missense NM_001387648.1:c.2603G>A NP_001374577.1:p.Arg868His missense NM_001387649.1:c.2642G>A NP_001374578.1:p.Arg881His missense NM_001387650.1:c.2603G>A NP_001374579.1:p.Arg868His missense NM_001387652.1:c.2132G>A NP_001374581.1:p.Arg711His missense NM_001387653.1:c.2363G>A NP_001374582.1:p.Arg788His missense NM_001387654.1:c.2132G>A NP_001374583.1:p.Arg711His missense NM_001387655.1:c.2471G>A NP_001374584.1:p.Arg824His missense NM_001387656.1:c.2471G>A NP_001374585.1:p.Arg824His missense NM_001387657.1:c.2471G>A NP_001374586.1:p.Arg824His missense NM_001387658.1:c.2471G>A NP_001374587.1:p.Arg824His missense NM_001387659.1:c.2471G>A NP_001374588.1:p.Arg824His missense NM_001387660.1:c.2603G>A NP_001374589.1:p.Arg868His missense NM_001387661.1:c.2603G>A NP_001374590.1:p.Arg868His missense NM_001387662.1:c.2603G>A NP_001374591.1:p.Arg868His missense NM_005607.5:c.2537G>A NP_005598.3:p.Arg846His missense NM_153831.4:c.2471G>A NP_722560.1:p.Arg824His missense NR_148036.2:n.2761G>A non-coding transcript variant NR_148037.2:n.2792G>A non-coding transcript variant NR_148038.2:n.2510G>A non-coding transcript variant NR_148039.2:n.2402G>A non-coding transcript variant NR_170671.1:n.2382G>A non-coding transcript variant NR_170672.1:n.2549G>A non-coding transcript variant NR_170673.1:n.2661G>A non-coding transcript variant NC_000008.11:g.140700919C>T NC_000008.10:g.141711018C>T NG_029467.2:g.305395G>A - Protein change
- R134H, R516H, R650H, R711H, R718H, R731H, R752H, R824H, R829H, R837H, R850H, R881H, R682H, R703H, R745H, R830H, R831H, R846H, R688H, R717H, R724H, R836H, R865H, R871H, R878H, R909H, R350H, R510H, R667H, R675H, R729H, R788H, R801H, R858H, R868H
- Other names
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- Canonical SPDI
- NC_000008.11:140700918: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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Apr 4, 2024 | RCV004662473.1 |
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
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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
(Apr 04, 2024)
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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: SCV005155739.1
First in ClinVar: Aug 11, 2024 Last updated: Aug 11, 2024 |
Comment:
The c.2537G>A (p.R846H) alteration is located in exon 26 (coding exon 25) of the PTK2 gene. This alteration results from a G to A substitution … (more)
The c.2537G>A (p.R846H) alteration is located in exon 26 (coding exon 25) of the PTK2 gene. This alteration results from a G to A substitution at nucleotide position 2537, causing the arginine (R) at amino acid position 846 to be replaced by a histidine (H). 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.2537G>A (p.R846H) alteration is located in exon 26 (coding exon 25) of the PTK2 gene. This alteration results from a G to A substitution at nucleotide position 2537, causing the arginine (R) at amino acid position 846 to be replaced by a histidine (H). 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 Aug 11, 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.