The c.2983C>G (p.P995A) alteration is located in exon 31 (coding exon 30) of the PTK2 gene. This alteration results from a C to G substitution at nucleotide position 2983, causing the proline (P) at amino acid position 995 to be replaced by an alanine (A). 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.3049C>G (p.Pro1017Ala)
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.3049C>G (p.Pro1017Ala)
Variation ID: 2253044 Accession: VCV002253044.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 140664946 (GRCh38) [ NCBI UCSC ] 8: 141675045 (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 May 1, 2024 Oct 5, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352702.2:c.3049C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Pro1017Ala missense NM_001199649.2:c.2956C>G NP_001186578.1:p.Pro986Ala missense NM_001316342.2:c.2626C>G NP_001303271.1:p.Pro876Ala missense NM_001352694.2:c.2917C>G NP_001339623.1:p.Pro973Ala missense NM_001352695.2:c.2956C>G NP_001339624.1:p.Pro986Ala missense NM_001352696.2:c.2626C>G NP_001339625.1:p.Pro876Ala missense NM_001352697.2:c.3109C>G NP_001339626.1:p.Pro1037Ala missense NM_001352698.2:c.3088C>G NP_001339627.1:p.Pro1030Ala missense NM_001352699.2:c.3049C>G NP_001339628.1:p.Pro1017Ala missense NM_001352700.2:c.3049C>G NP_001339629.1:p.Pro1017Ala missense NM_001352701.2:c.3049C>G NP_001339630.1:p.Pro1017Ala missense NM_001352703.2:c.3049C>G NP_001339632.1:p.Pro1017Ala missense NM_001352704.2:c.3028C>G NP_001339633.1:p.Pro1010Ala missense NM_001352705.2:c.3004C>G NP_001339634.1:p.Pro1002Ala missense NM_001352706.2:c.2965C>G NP_001339635.1:p.Pro989Ala missense NM_001352707.2:c.2965C>G NP_001339636.1:p.Pro989Ala missense NM_001352708.2:c.2965C>G NP_001339637.1:p.Pro989Ala missense NM_001352709.2:c.2965C>G NP_001339638.1:p.Pro989Ala missense NM_001352710.2:c.2965C>G NP_001339639.1:p.Pro989Ala missense NM_001352711.2:c.2962C>G NP_001339640.1:p.Pro988Ala missense NM_001352712.2:c.3040C>G NP_001339641.1:p.Pro1014Ala missense NM_001352713.2:c.2947C>G NP_001339642.1:p.Pro983Ala missense NM_001352714.2:c.2947C>G NP_001339643.1:p.Pro983Ala missense NM_001352715.2:c.2944C>G NP_001339644.1:p.Pro982Ala missense NM_001352716.2:c.2941C>G NP_001339645.1:p.Pro981Ala missense NM_001352717.2:c.2935C>G NP_001339646.1:p.Pro979Ala missense NM_001352718.2:c.2926C>G NP_001339647.1:p.Pro976Ala missense NM_001352719.2:c.2926C>G NP_001339648.1:p.Pro976Ala missense NM_001352720.2:c.2926C>G NP_001339649.1:p.Pro976Ala missense NM_001352721.2:c.2902C>G NP_001339650.1:p.Pro968Ala missense NM_001352722.2:c.2902C>G NP_001339651.1:p.Pro968Ala missense NM_001352723.2:c.2902C>G NP_001339652.1:p.Pro968Ala missense NM_001352724.2:c.2913+3323C>G intron variant NM_001352725.2:c.2863C>G NP_001339654.1:p.Pro955Ala missense NM_001352726.2:c.2857C>G NP_001339655.1:p.Pro953Ala missense NM_001352727.2:c.2850+3323C>G intron variant NM_001352728.2:c.2809C>G NP_001339657.1:p.Pro937Ala missense NM_001352729.2:c.2794C>G NP_001339658.1:p.Pro932Ala missense NM_001352730.2:c.2710C>G NP_001339659.1:p.Pro904Ala missense NM_001352731.2:c.2704C>G NP_001339660.1:p.Pro902Ala missense NM_001352732.2:c.2701C>G NP_001339661.1:p.Pro901Ala missense NM_001352733.2:c.2689C>G NP_001339662.1:p.Pro897Ala missense NM_001352734.2:c.2647C>G NP_001339663.1:p.Pro883Ala missense NM_001352735.2:c.2647C>G NP_001339664.1:p.Pro883Ala missense NM_001352736.2:c.2641C>G NP_001339665.1:p.Pro881Ala missense NM_001352737.2:c.2680C>G NP_001339666.1:p.Pro894Ala missense NM_001352738.2:c.2620C>G NP_001339667.1:p.Pro874Ala missense NM_001352739.2:c.2608C>G NP_001339668.1:p.Pro870Ala missense NM_001352740.2:c.2605C>G NP_001339669.1:p.Pro869Ala missense NM_001352741.2:c.2587C>G NP_001339670.1:p.Pro863Ala missense NM_001352742.2:c.2563C>G NP_001339671.1:p.Pro855Ala missense NM_001352743.2:c.2563C>G NP_001339672.1:p.Pro855Ala missense NM_001352744.2:c.2518C>G NP_001339673.1:p.Pro840Ala missense NM_001352745.2:c.2500C>G NP_001339674.1:p.Pro834Ala missense NM_001352746.2:c.2455C>G NP_001339675.1:p.Pro819Ala missense NM_001352747.2:c.1504C>G NP_001339676.1:p.Pro502Ala missense NM_001352749.2:c.856C>G NP_001339678.1:p.Pro286Ala missense NM_001352750.2:c.847C>G NP_001339679.1:p.Pro283Ala missense NM_001352751.2:c.793C>G NP_001339680.1:p.Pro265Ala missense NM_001352752.2:c.784C>G NP_001339681.1:p.Pro262Ala missense NM_001387584.1:c.2578C>G NP_001374513.1:p.Pro860Ala missense NM_001387585.1:c.2854C>G NP_001374514.1:p.Pro952Ala missense NM_001387586.1:c.2917C>G NP_001374515.1:p.Pro973Ala missense NM_001387587.1:c.2917C>G NP_001374516.1:p.Pro973Ala missense NM_001387590.1:c.2470C>G NP_001374519.1:p.Pro824Ala missense NM_001387591.1:c.2515C>G NP_001374520.1:p.Pro839Ala missense NM_001387592.1:c.1975C>G NP_001374521.1:p.Pro659Ala missense NM_001387603.1:c.2524C>G NP_001374532.1:p.Pro842Ala missense NM_001387604.1:c.1984C>G NP_001374533.1:p.Pro662Ala missense NM_001387605.1:c.2578C>G NP_001374534.1:p.Pro860Ala missense NM_001387606.1:c.2608C>G NP_001374535.1:p.Pro870Ala missense NM_001387607.1:c.2617C>G NP_001374536.1:p.Pro873Ala missense NM_001387608.1:c.2578C>G NP_001374537.1:p.Pro860Ala missense NM_001387609.1:c.2587C>G NP_001374538.1:p.Pro863Ala missense NM_001387610.1:c.2395C>G NP_001374539.1:p.Pro799Ala missense NM_001387611.1:c.2596C>G NP_001374540.1:p.Pro866Ala missense NM_001387612.1:c.2578C>G NP_001374541.1:p.Pro860Ala missense NM_001387613.1:c.2587C>G NP_001374542.1:p.Pro863Ala missense NM_001387614.1:c.2854C>G NP_001374543.1:p.Pro952Ala missense NM_001387615.1:c.2857C>G NP_001374544.1:p.Pro953Ala missense NM_001387616.1:c.1975C>G NP_001374545.1:p.Pro659Ala missense NM_001387617.1:c.1975C>G NP_001374546.1:p.Pro659Ala missense NM_001387618.1:c.2578C>G NP_001374547.1:p.Pro860Ala missense NM_001387619.1:c.2809C>G NP_001374548.1:p.Pro937Ala missense NM_001387620.1:c.2626C>G NP_001374549.1:p.Pro876Ala missense NM_001387621.1:c.1975C>G NP_001374550.1:p.Pro659Ala missense NM_001387622.1:c.2935C>G NP_001374551.1:p.Pro979Ala missense NM_001387623.1:c.2578C>G NP_001374552.1:p.Pro860Ala missense NM_001387624.1:c.2941C>G NP_001374553.1:p.Pro981Ala missense NM_001387625.1:c.2863C>G NP_001374554.1:p.Pro955Ala missense NM_001387627.1:c.2872C>G NP_001374556.1:p.Pro958Ala missense NM_001387628.1:c.2917C>G NP_001374557.1:p.Pro973Ala missense NM_001387629.1:c.2002C>G NP_001374558.1:p.Pro668Ala missense NM_001387630.1:c.2395C>G NP_001374559.1:p.Pro799Ala missense NM_001387631.1:c.2941C>G NP_001374560.1:p.Pro981Ala missense NM_001387632.1:c.2854C>G NP_001374561.1:p.Pro952Ala missense NM_001387633.1:c.2884C>G NP_001374562.1:p.Pro962Ala missense NM_001387634.1:c.2944C>G NP_001374563.1:p.Pro982Ala missense NM_001387635.1:c.2470C>G NP_001374564.1:p.Pro824Ala missense NM_001387636.1:c.2917C>G NP_001374565.1:p.Pro973Ala missense NM_001387637.1:c.2917C>G NP_001374566.1:p.Pro973Ala missense NM_001387638.1:c.2926C>G NP_001374567.1:p.Pro976Ala missense NM_001387639.1:c.2965C>G NP_001374568.1:p.Pro989Ala missense NM_001387640.1:c.2986C>G NP_001374569.1:p.Pro996Ala missense NM_001387641.1:c.2956C>G NP_001374570.1:p.Pro986Ala missense NM_001387642.1:c.2917C>G NP_001374571.1:p.Pro973Ala missense NM_001387643.1:c.3049C>G NP_001374572.1:p.Pro1017Ala missense NM_001387644.1:c.3067C>G NP_001374573.1:p.Pro1023Ala missense NM_001387645.1:c.2917C>G NP_001374574.1:p.Pro973Ala missense NM_001387646.1:c.3049C>G NP_001374575.1:p.Pro1017Ala missense NM_001387647.1:c.2917C>G NP_001374576.1:p.Pro973Ala missense NM_001387648.1:c.3049C>G NP_001374577.1:p.Pro1017Ala missense NM_001387649.1:c.3097C>G NP_001374578.1:p.Pro1033Ala missense NM_001387650.1:c.3049C>G NP_001374579.1:p.Pro1017Ala missense NM_001387652.1:c.2578C>G NP_001374581.1:p.Pro860Ala missense NM_001387653.1:c.2809C>G NP_001374582.1:p.Pro937Ala missense NM_001387654.1:c.2578C>G NP_001374583.1:p.Pro860Ala missense NM_001387655.1:c.2917C>G NP_001374584.1:p.Pro973Ala missense NM_001387656.1:c.2863C>G NP_001374585.1:p.Pro955Ala missense NM_001387657.1:c.2917C>G NP_001374586.1:p.Pro973Ala missense NM_001387658.1:c.2917C>G NP_001374587.1:p.Pro973Ala missense NM_001387659.1:c.2926C>G NP_001374588.1:p.Pro976Ala missense NM_001387660.1:c.3049C>G NP_001374589.1:p.Pro1017Ala missense NM_001387661.1:c.3049C>G NP_001374590.1:p.Pro1017Ala missense NM_001387662.1:c.3058C>G NP_001374591.1:p.Pro1020Ala missense NM_005607.5:c.2983C>G NP_005598.3:p.Pro995Ala missense NM_153831.4:c.2917C>G NP_722560.1:p.Pro973Ala missense NR_148036.2:n.3216C>G non-coding transcript variant NR_148037.2:n.3247C>G non-coding transcript variant NR_148038.2:n.2965C>G non-coding transcript variant NR_148039.2:n.2857C>G non-coding transcript variant NR_170671.1:n.2828C>G non-coding transcript variant NR_170672.1:n.2995C>G non-coding transcript variant NR_170673.1:n.3205C>G non-coding transcript variant NC_000008.11:g.140664946G>C NC_000008.10:g.141675045G>C NG_029467.2:g.341368C>G - Protein change
- P1023A, P262A, P286A, P502A, P662A, P819A, P834A, P881A, P904A, P952A, P953A, P962A, P968A, P976A, P983A, P989A, P1002A, P1014A, P1020A, P265A, P283A, P668A, P860A, P866A, P869A, P873A, P883A, P894A, P958A, P979A, P986A, P996A, P1010A, P1030A, P1033A, P839A, P840A, P842A, P874A, P876A, P937A, P955A, P981A, P982A, P995A, P1017A, P1037A, P659A, P799A, P824A, P855A, P863A, P870A, P897A, P901A, P902A, P932A, P973A, P988A
- Other names
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- Canonical SPDI
- NC_000008.11:140664945:G:C
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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
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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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Oct 5, 2021 | RCV004107789.1 |
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
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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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Uncertain significance
(Oct 05, 2021)
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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: SCV003580535.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.2983C>G (p.P995A) alteration is located in exon 31 (coding exon 30) of the PTK2 gene. This alteration results from a C to G substitution … (more)
The c.2983C>G (p.P995A) alteration is located in exon 31 (coding exon 30) of the PTK2 gene. This alteration results from a C to G substitution at nucleotide position 2983, causing the proline (P) at amino acid position 995 to be replaced by an alanine (A). 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.2983C>G (p.P995A) alteration is located in exon 31 (coding exon 30) of the PTK2 gene. This alteration results from a C to G substitution at nucleotide position 2983, causing the proline (P) at amino acid position 995 to be replaced by an alanine (A). 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 25, 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.