ClinVar Genomic variation as it relates to human health
NM_001352702.2(PTK2):c.2896G>T (p.Asp966Tyr)
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.2896G>T (p.Asp966Tyr)
Variation ID: 3148993 Accession: VCV003148993.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 140668370 (GRCh38) [ NCBI UCSC ] 8: 141678469 (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 Feb 21, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_001352702.2:c.2896G>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Asp966Tyr missense NM_001199649.2:c.2803G>T NP_001186578.1:p.Asp935Tyr missense NM_001316342.2:c.2473G>T NP_001303271.1:p.Asp825Tyr missense NM_001352694.2:c.2764G>T NP_001339623.1:p.Asp922Tyr missense NM_001352695.2:c.2803G>T NP_001339624.1:p.Asp935Tyr missense NM_001352696.2:c.2473G>T NP_001339625.1:p.Asp825Tyr missense NM_001352697.2:c.2956G>T NP_001339626.1:p.Asp986Tyr missense NM_001352698.2:c.2935G>T NP_001339627.1:p.Asp979Tyr missense NM_001352699.2:c.2896G>T NP_001339628.1:p.Asp966Tyr missense NM_001352700.2:c.2896G>T NP_001339629.1:p.Asp966Tyr missense NM_001352701.2:c.2896G>T NP_001339630.1:p.Asp966Tyr missense NM_001352703.2:c.2896G>T NP_001339632.1:p.Asp966Tyr missense NM_001352704.2:c.2875G>T NP_001339633.1:p.Asp959Tyr missense NM_001352705.2:c.2851G>T NP_001339634.1:p.Asp951Tyr missense NM_001352706.2:c.2812G>T NP_001339635.1:p.Asp938Tyr missense NM_001352707.2:c.2812G>T NP_001339636.1:p.Asp938Tyr missense NM_001352708.2:c.2812G>T NP_001339637.1:p.Asp938Tyr missense NM_001352709.2:c.2812G>T NP_001339638.1:p.Asp938Tyr missense NM_001352710.2:c.2812G>T NP_001339639.1:p.Asp938Tyr missense NM_001352711.2:c.2809G>T NP_001339640.1:p.Asp937Tyr missense NM_001352712.2:c.2887G>T NP_001339641.1:p.Asp963Tyr missense NM_001352713.2:c.2794G>T NP_001339642.1:p.Asp932Tyr missense NM_001352714.2:c.2794G>T NP_001339643.1:p.Asp932Tyr missense NM_001352715.2:c.2791G>T NP_001339644.1:p.Asp931Tyr missense NM_001352716.2:c.2788G>T NP_001339645.1:p.Asp930Tyr missense NM_001352717.2:c.2782G>T NP_001339646.1:p.Asp928Tyr missense NM_001352718.2:c.2773G>T NP_001339647.1:p.Asp925Tyr missense NM_001352719.2:c.2773G>T NP_001339648.1:p.Asp925Tyr missense NM_001352720.2:c.2773G>T NP_001339649.1:p.Asp925Tyr missense NM_001352721.2:c.2749G>T NP_001339650.1:p.Asp917Tyr missense NM_001352722.2:c.2749G>T NP_001339651.1:p.Asp917Tyr missense NM_001352723.2:c.2749G>T NP_001339652.1:p.Asp917Tyr missense NM_001352724.2:c.2812G>T NP_001339653.1:p.Asp938Tyr missense NM_001352725.2:c.2710G>T NP_001339654.1:p.Asp904Tyr missense NM_001352726.2:c.2704G>T NP_001339655.1:p.Asp902Tyr missense NM_001352727.2:c.2749G>T NP_001339656.1:p.Asp917Tyr missense NM_001352728.2:c.2656G>T NP_001339657.1:p.Asp886Tyr missense NM_001352729.2:c.2641G>T NP_001339658.1:p.Asp881Tyr missense NM_001352730.2:c.2557G>T NP_001339659.1:p.Asp853Tyr missense NM_001352731.2:c.2551G>T NP_001339660.1:p.Asp851Tyr missense NM_001352732.2:c.2548G>T NP_001339661.1:p.Asp850Tyr missense NM_001352733.2:c.2536G>T NP_001339662.1:p.Asp846Tyr missense NM_001352734.2:c.2494G>T NP_001339663.1:p.Asp832Tyr missense NM_001352735.2:c.2494G>T NP_001339664.1:p.Asp832Tyr missense NM_001352736.2:c.2488G>T NP_001339665.1:p.Asp830Tyr missense NM_001352737.2:c.2527G>T NP_001339666.1:p.Asp843Tyr missense NM_001352738.2:c.2467G>T NP_001339667.1:p.Asp823Tyr missense NM_001352739.2:c.2455G>T NP_001339668.1:p.Asp819Tyr missense NM_001352740.2:c.2452G>T NP_001339669.1:p.Asp818Tyr missense NM_001352741.2:c.2434G>T NP_001339670.1:p.Asp812Tyr missense NM_001352742.2:c.2410G>T NP_001339671.1:p.Asp804Tyr missense NM_001352743.2:c.2410G>T NP_001339672.1:p.Asp804Tyr missense NM_001352744.2:c.2365G>T NP_001339673.1:p.Asp789Tyr missense NM_001352745.2:c.2347G>T NP_001339674.1:p.Asp783Tyr missense NM_001352746.2:c.2302G>T NP_001339675.1:p.Asp768Tyr missense NM_001352747.2:c.1351G>T NP_001339676.1:p.Asp451Tyr missense NM_001352749.2:c.703G>T NP_001339678.1:p.Asp235Tyr missense NM_001352750.2:c.694G>T NP_001339679.1:p.Asp232Tyr missense NM_001352751.2:c.640G>T NP_001339680.1:p.Asp214Tyr missense NM_001352752.2:c.631G>T NP_001339681.1:p.Asp211Tyr missense NM_001387584.1:c.2425G>T NP_001374513.1:p.Asp809Tyr missense NM_001387585.1:c.2701G>T NP_001374514.1:p.Asp901Tyr missense NM_001387586.1:c.2764G>T NP_001374515.1:p.Asp922Tyr missense NM_001387587.1:c.2764G>T NP_001374516.1:p.Asp922Tyr missense NM_001387590.1:c.2317G>T NP_001374519.1:p.Asp773Tyr missense NM_001387591.1:c.2362G>T NP_001374520.1:p.Asp788Tyr missense NM_001387592.1:c.1822G>T NP_001374521.1:p.Asp608Tyr missense NM_001387603.1:c.2371G>T NP_001374532.1:p.Asp791Tyr missense NM_001387604.1:c.1831G>T NP_001374533.1:p.Asp611Tyr missense NM_001387605.1:c.2425G>T NP_001374534.1:p.Asp809Tyr missense NM_001387606.1:c.2455G>T NP_001374535.1:p.Asp819Tyr missense NM_001387607.1:c.2464G>T NP_001374536.1:p.Asp822Tyr missense NM_001387608.1:c.2425G>T NP_001374537.1:p.Asp809Tyr missense NM_001387609.1:c.2434G>T NP_001374538.1:p.Asp812Tyr missense NM_001387610.1:c.2242G>T NP_001374539.1:p.Asp748Tyr missense NM_001387611.1:c.2443G>T NP_001374540.1:p.Asp815Tyr missense NM_001387612.1:c.2425G>T NP_001374541.1:p.Asp809Tyr missense NM_001387613.1:c.2434G>T NP_001374542.1:p.Asp812Tyr missense NM_001387614.1:c.2701G>T NP_001374543.1:p.Asp901Tyr missense NM_001387615.1:c.2704G>T NP_001374544.1:p.Asp902Tyr missense NM_001387616.1:c.1822G>T NP_001374545.1:p.Asp608Tyr missense NM_001387617.1:c.1822G>T NP_001374546.1:p.Asp608Tyr missense NM_001387618.1:c.2425G>T NP_001374547.1:p.Asp809Tyr missense NM_001387619.1:c.2656G>T NP_001374548.1:p.Asp886Tyr missense NM_001387620.1:c.2473G>T NP_001374549.1:p.Asp825Tyr missense NM_001387621.1:c.1822G>T NP_001374550.1:p.Asp608Tyr missense NM_001387622.1:c.2782G>T NP_001374551.1:p.Asp928Tyr missense NM_001387623.1:c.2425G>T NP_001374552.1:p.Asp809Tyr missense NM_001387624.1:c.2788G>T NP_001374553.1:p.Asp930Tyr missense NM_001387625.1:c.2710G>T NP_001374554.1:p.Asp904Tyr missense NM_001387627.1:c.2719G>T NP_001374556.1:p.Asp907Tyr missense NM_001387628.1:c.2764G>T NP_001374557.1:p.Asp922Tyr missense NM_001387629.1:c.1849G>T NP_001374558.1:p.Asp617Tyr missense NM_001387630.1:c.2242G>T NP_001374559.1:p.Asp748Tyr missense NM_001387631.1:c.2788G>T NP_001374560.1:p.Asp930Tyr missense NM_001387632.1:c.2701G>T NP_001374561.1:p.Asp901Tyr missense NM_001387633.1:c.2731G>T NP_001374562.1:p.Asp911Tyr missense NM_001387634.1:c.2791G>T NP_001374563.1:p.Asp931Tyr missense NM_001387635.1:c.2317G>T NP_001374564.1:p.Asp773Tyr missense NM_001387636.1:c.2764G>T NP_001374565.1:p.Asp922Tyr missense NM_001387637.1:c.2764G>T NP_001374566.1:p.Asp922Tyr missense NM_001387638.1:c.2773G>T NP_001374567.1:p.Asp925Tyr missense NM_001387639.1:c.2812G>T NP_001374568.1:p.Asp938Tyr missense NM_001387640.1:c.2833G>T NP_001374569.1:p.Asp945Tyr missense NM_001387641.1:c.2803G>T NP_001374570.1:p.Asp935Tyr missense NM_001387642.1:c.2764G>T NP_001374571.1:p.Asp922Tyr missense NM_001387643.1:c.2896G>T NP_001374572.1:p.Asp966Tyr missense NM_001387644.1:c.2914G>T NP_001374573.1:p.Asp972Tyr missense NM_001387645.1:c.2764G>T NP_001374574.1:p.Asp922Tyr missense NM_001387646.1:c.2896G>T NP_001374575.1:p.Asp966Tyr missense NM_001387647.1:c.2764G>T NP_001374576.1:p.Asp922Tyr missense NM_001387648.1:c.2896G>T NP_001374577.1:p.Asp966Tyr missense NM_001387649.1:c.2944G>T NP_001374578.1:p.Asp982Tyr missense NM_001387650.1:c.2896G>T NP_001374579.1:p.Asp966Tyr missense NM_001387652.1:c.2425G>T NP_001374581.1:p.Asp809Tyr missense NM_001387653.1:c.2656G>T NP_001374582.1:p.Asp886Tyr missense NM_001387654.1:c.2425G>T NP_001374583.1:p.Asp809Tyr missense NM_001387655.1:c.2764G>T NP_001374584.1:p.Asp922Tyr missense NM_001387656.1:c.2710G>T NP_001374585.1:p.Asp904Tyr missense NM_001387657.1:c.2764G>T NP_001374586.1:p.Asp922Tyr missense NM_001387658.1:c.2764G>T NP_001374587.1:p.Asp922Tyr missense NM_001387659.1:c.2773G>T NP_001374588.1:p.Asp925Tyr missense NM_001387660.1:c.2896G>T NP_001374589.1:p.Asp966Tyr missense NM_001387661.1:c.2896G>T NP_001374590.1:p.Asp966Tyr missense NM_001387662.1:c.2905G>T NP_001374591.1:p.Asp969Tyr missense NM_005607.5:c.2830G>T NP_005598.3:p.Asp944Tyr missense NM_153831.4:c.2764G>T NP_722560.1:p.Asp922Tyr missense NR_148036.2:n.3063G>T non-coding transcript variant NR_148037.2:n.3094G>T non-coding transcript variant NR_148038.2:n.2812G>T non-coding transcript variant NR_148039.2:n.2704G>T non-coding transcript variant NR_170671.1:n.2675G>T non-coding transcript variant NR_170672.1:n.2842G>T non-coding transcript variant NR_170673.1:n.3052G>T non-coding transcript variant NC_000008.11:g.140668370C>A NC_000008.10:g.141678469C>A NG_029467.2:g.337944G>T - Protein change
- D214Y, D235Y, D451Y, D748Y, D804Y, D822Y, D881Y, D886Y, D930Y, D931Y, D963Y, D979Y, D211Y, D232Y, D768Y, D789Y, D791Y, D819Y, D850Y, D917Y, D922Y, D928Y, D935Y, D945Y, D959Y, D972Y, D982Y, D608Y, D611Y, D617Y, D783Y, D809Y, D812Y, D823Y, D830Y, D832Y, D843Y, D851Y, D853Y, D901Y, D902Y, D911Y, D932Y, D937Y, D938Y, D944Y, D951Y, D986Y, D773Y, D788Y, D815Y, D818Y, D825Y, D846Y, D904Y, D907Y, D925Y, D966Y, D969Y
- Other names
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- Canonical SPDI
- NC_000008.11:140668369:C: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 |
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. |
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Uncertain significance (1) |
criteria provided, single submitter
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Feb 21, 2024 | RCV004442888.1 |
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
(Feb 21, 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: SCV004934807.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.2830G>T (p.D944Y) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a G to T substitution … (more)
The c.2830G>T (p.D944Y) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a G to T substitution at nucleotide position 2830, causing the aspartic acid (D) at amino acid position 944 to be replaced by a tyrosine (Y). 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.