The c.2852C>T (p.T951M) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a C to T substitution at nucleotide position 2852, causing the threonine (T) at amino acid position 951 to be replaced by a methionine (M). 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.2918C>T (p.Thr973Met)
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
-
NM_001352702.2(PTK2):c.2918C>T (p.Thr973Met)
Variation ID: 2557569 Accession: VCV002557569.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 8q24.3 8: 140668348 (GRCh38) [ NCBI UCSC ] 8: 141678447 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 Jul 8, 2023 May 1, 2024 Jun 6, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352702.2:c.2918C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Thr973Met missense NM_001199649.2:c.2825C>T NP_001186578.1:p.Thr942Met missense NM_001316342.2:c.2495C>T NP_001303271.1:p.Thr832Met missense NM_001352694.2:c.2786C>T NP_001339623.1:p.Thr929Met missense NM_001352695.2:c.2825C>T NP_001339624.1:p.Thr942Met missense NM_001352696.2:c.2495C>T NP_001339625.1:p.Thr832Met missense NM_001352697.2:c.2978C>T NP_001339626.1:p.Thr993Met missense NM_001352698.2:c.2957C>T NP_001339627.1:p.Thr986Met missense NM_001352699.2:c.2918C>T NP_001339628.1:p.Thr973Met missense NM_001352700.2:c.2918C>T NP_001339629.1:p.Thr973Met missense NM_001352701.2:c.2918C>T NP_001339630.1:p.Thr973Met missense NM_001352703.2:c.2918C>T NP_001339632.1:p.Thr973Met missense NM_001352704.2:c.2897C>T NP_001339633.1:p.Thr966Met missense NM_001352705.2:c.2873C>T NP_001339634.1:p.Thr958Met missense NM_001352706.2:c.2834C>T NP_001339635.1:p.Thr945Met missense NM_001352707.2:c.2834C>T NP_001339636.1:p.Thr945Met missense NM_001352708.2:c.2834C>T NP_001339637.1:p.Thr945Met missense NM_001352709.2:c.2834C>T NP_001339638.1:p.Thr945Met missense NM_001352710.2:c.2834C>T NP_001339639.1:p.Thr945Met missense NM_001352711.2:c.2831C>T NP_001339640.1:p.Thr944Met missense NM_001352712.2:c.2909C>T NP_001339641.1:p.Thr970Met missense NM_001352713.2:c.2816C>T NP_001339642.1:p.Thr939Met missense NM_001352714.2:c.2816C>T NP_001339643.1:p.Thr939Met missense NM_001352715.2:c.2813C>T NP_001339644.1:p.Thr938Met missense NM_001352716.2:c.2810C>T NP_001339645.1:p.Thr937Met missense NM_001352717.2:c.2804C>T NP_001339646.1:p.Thr935Met missense NM_001352718.2:c.2795C>T NP_001339647.1:p.Thr932Met missense NM_001352719.2:c.2795C>T NP_001339648.1:p.Thr932Met missense NM_001352720.2:c.2795C>T NP_001339649.1:p.Thr932Met missense NM_001352721.2:c.2771C>T NP_001339650.1:p.Thr924Met missense NM_001352722.2:c.2771C>T NP_001339651.1:p.Thr924Met missense NM_001352723.2:c.2771C>T NP_001339652.1:p.Thr924Met missense NM_001352724.2:c.2834C>T NP_001339653.1:p.Thr945Met missense NM_001352725.2:c.2732C>T NP_001339654.1:p.Thr911Met missense NM_001352726.2:c.2726C>T NP_001339655.1:p.Thr909Met missense NM_001352727.2:c.2771C>T NP_001339656.1:p.Thr924Met missense NM_001352728.2:c.2678C>T NP_001339657.1:p.Thr893Met missense NM_001352729.2:c.2663C>T NP_001339658.1:p.Thr888Met missense NM_001352730.2:c.2579C>T NP_001339659.1:p.Thr860Met missense NM_001352731.2:c.2573C>T NP_001339660.1:p.Thr858Met missense NM_001352732.2:c.2570C>T NP_001339661.1:p.Thr857Met missense NM_001352733.2:c.2558C>T NP_001339662.1:p.Thr853Met missense NM_001352734.2:c.2516C>T NP_001339663.1:p.Thr839Met missense NM_001352735.2:c.2516C>T NP_001339664.1:p.Thr839Met missense NM_001352736.2:c.2510C>T NP_001339665.1:p.Thr837Met missense NM_001352737.2:c.2549C>T NP_001339666.1:p.Thr850Met missense NM_001352738.2:c.2489C>T NP_001339667.1:p.Thr830Met missense NM_001352739.2:c.2477C>T NP_001339668.1:p.Thr826Met missense NM_001352740.2:c.2474C>T NP_001339669.1:p.Thr825Met missense NM_001352741.2:c.2456C>T NP_001339670.1:p.Thr819Met missense NM_001352742.2:c.2432C>T NP_001339671.1:p.Thr811Met missense NM_001352743.2:c.2432C>T NP_001339672.1:p.Thr811Met missense NM_001352744.2:c.2387C>T NP_001339673.1:p.Thr796Met missense NM_001352745.2:c.2369C>T NP_001339674.1:p.Thr790Met missense NM_001352746.2:c.2324C>T NP_001339675.1:p.Thr775Met missense NM_001352747.2:c.1373C>T NP_001339676.1:p.Thr458Met missense NM_001352749.2:c.725C>T NP_001339678.1:p.Thr242Met missense NM_001352750.2:c.716C>T NP_001339679.1:p.Thr239Met missense NM_001352751.2:c.662C>T NP_001339680.1:p.Thr221Met missense NM_001352752.2:c.653C>T NP_001339681.1:p.Thr218Met missense NM_001387584.1:c.2447C>T NP_001374513.1:p.Thr816Met missense NM_001387585.1:c.2723C>T NP_001374514.1:p.Thr908Met missense NM_001387586.1:c.2786C>T NP_001374515.1:p.Thr929Met missense NM_001387587.1:c.2786C>T NP_001374516.1:p.Thr929Met missense NM_001387590.1:c.2339C>T NP_001374519.1:p.Thr780Met missense NM_001387591.1:c.2384C>T NP_001374520.1:p.Thr795Met missense NM_001387592.1:c.1844C>T NP_001374521.1:p.Thr615Met missense NM_001387603.1:c.2393C>T NP_001374532.1:p.Thr798Met missense NM_001387604.1:c.1853C>T NP_001374533.1:p.Thr618Met missense NM_001387605.1:c.2447C>T NP_001374534.1:p.Thr816Met missense NM_001387606.1:c.2477C>T NP_001374535.1:p.Thr826Met missense NM_001387607.1:c.2486C>T NP_001374536.1:p.Thr829Met missense NM_001387608.1:c.2447C>T NP_001374537.1:p.Thr816Met missense NM_001387609.1:c.2456C>T NP_001374538.1:p.Thr819Met missense NM_001387610.1:c.2264C>T NP_001374539.1:p.Thr755Met missense NM_001387611.1:c.2465C>T NP_001374540.1:p.Thr822Met missense NM_001387612.1:c.2447C>T NP_001374541.1:p.Thr816Met missense NM_001387613.1:c.2456C>T NP_001374542.1:p.Thr819Met missense NM_001387614.1:c.2723C>T NP_001374543.1:p.Thr908Met missense NM_001387615.1:c.2726C>T NP_001374544.1:p.Thr909Met missense NM_001387616.1:c.1844C>T NP_001374545.1:p.Thr615Met missense NM_001387617.1:c.1844C>T NP_001374546.1:p.Thr615Met missense NM_001387618.1:c.2447C>T NP_001374547.1:p.Thr816Met missense NM_001387619.1:c.2678C>T NP_001374548.1:p.Thr893Met missense NM_001387620.1:c.2495C>T NP_001374549.1:p.Thr832Met missense NM_001387621.1:c.1844C>T NP_001374550.1:p.Thr615Met missense NM_001387622.1:c.2804C>T NP_001374551.1:p.Thr935Met missense NM_001387623.1:c.2447C>T NP_001374552.1:p.Thr816Met missense NM_001387624.1:c.2810C>T NP_001374553.1:p.Thr937Met missense NM_001387625.1:c.2732C>T NP_001374554.1:p.Thr911Met missense NM_001387627.1:c.2741C>T NP_001374556.1:p.Thr914Met missense NM_001387628.1:c.2786C>T NP_001374557.1:p.Thr929Met missense NM_001387629.1:c.1871C>T NP_001374558.1:p.Thr624Met missense NM_001387630.1:c.2264C>T NP_001374559.1:p.Thr755Met missense NM_001387631.1:c.2810C>T NP_001374560.1:p.Thr937Met missense NM_001387632.1:c.2723C>T NP_001374561.1:p.Thr908Met missense NM_001387633.1:c.2753C>T NP_001374562.1:p.Thr918Met missense NM_001387634.1:c.2813C>T NP_001374563.1:p.Thr938Met missense NM_001387635.1:c.2339C>T NP_001374564.1:p.Thr780Met missense NM_001387636.1:c.2786C>T NP_001374565.1:p.Thr929Met missense NM_001387637.1:c.2786C>T NP_001374566.1:p.Thr929Met missense NM_001387638.1:c.2795C>T NP_001374567.1:p.Thr932Met missense NM_001387639.1:c.2834C>T NP_001374568.1:p.Thr945Met missense NM_001387640.1:c.2855C>T NP_001374569.1:p.Thr952Met missense NM_001387641.1:c.2825C>T NP_001374570.1:p.Thr942Met missense NM_001387642.1:c.2786C>T NP_001374571.1:p.Thr929Met missense NM_001387643.1:c.2918C>T NP_001374572.1:p.Thr973Met missense NM_001387644.1:c.2936C>T NP_001374573.1:p.Thr979Met missense NM_001387645.1:c.2786C>T NP_001374574.1:p.Thr929Met missense NM_001387646.1:c.2918C>T NP_001374575.1:p.Thr973Met missense NM_001387647.1:c.2786C>T NP_001374576.1:p.Thr929Met missense NM_001387648.1:c.2918C>T NP_001374577.1:p.Thr973Met missense NM_001387649.1:c.2966C>T NP_001374578.1:p.Thr989Met missense NM_001387650.1:c.2918C>T NP_001374579.1:p.Thr973Met missense NM_001387652.1:c.2447C>T NP_001374581.1:p.Thr816Met missense NM_001387653.1:c.2678C>T NP_001374582.1:p.Thr893Met missense NM_001387654.1:c.2447C>T NP_001374583.1:p.Thr816Met missense NM_001387655.1:c.2786C>T NP_001374584.1:p.Thr929Met missense NM_001387656.1:c.2732C>T NP_001374585.1:p.Thr911Met missense NM_001387657.1:c.2786C>T NP_001374586.1:p.Thr929Met missense NM_001387658.1:c.2786C>T NP_001374587.1:p.Thr929Met missense NM_001387659.1:c.2795C>T NP_001374588.1:p.Thr932Met missense NM_001387660.1:c.2918C>T NP_001374589.1:p.Thr973Met missense NM_001387661.1:c.2918C>T NP_001374590.1:p.Thr973Met missense NM_001387662.1:c.2927C>T NP_001374591.1:p.Thr976Met missense NM_005607.5:c.2852C>T NP_005598.3:p.Thr951Met missense NM_153831.4:c.2786C>T NP_722560.1:p.Thr929Met missense NR_148036.2:n.3085C>T non-coding transcript variant NR_148037.2:n.3116C>T non-coding transcript variant NR_148038.2:n.2834C>T non-coding transcript variant NR_148039.2:n.2726C>T non-coding transcript variant NR_170671.1:n.2697C>T non-coding transcript variant NR_170672.1:n.2864C>T non-coding transcript variant NR_170673.1:n.3074C>T non-coding transcript variant NC_000008.11:g.140668348G>A NC_000008.10:g.141678447G>A NG_029467.2:g.337966C>T - Protein change
- T221M, T615M, T624M, T755M, T795M, T816M, T822M, T825M, T830M, T850M, T908M, T924M, T932M, T944M, T945M, T958M, T970M, T976M, T979M, T993M, T218M, T458M, T857M, T888M, T914M, T935M, T939M, T942M, T951M, T973M, T986M, T989M, T242M, T790M, T811M, T819M, T829M, T832M, T853M, T893M, T909M, T929M, T966M, T239M, T618M, T775M, T780M, T796M, T798M, T826M, T837M, T839M, T858M, T860M, T911M, T918M, T937M, T938M, T952M
- Other names
- -
- Canonical SPDI
- NC_000008.11:140668347:G:A
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- 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. |
|||
| PTK2 | - | - |
GRCh38 GRCh37 |
- | - | |
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
|
Jun 6, 2023 | RCV004325362.1 |
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. |
|
|---|---|---|---|---|---|
|
Uncertain significance
(Jun 06, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV003993544.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The c.2852C>T (p.T951M) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a C to T substitution … (more)
The c.2852C>T (p.T951M) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a C to T substitution at nucleotide position 2852, causing the threonine (T) at amino acid position 951 to be replaced by a methionine (M). 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.2852C>T (p.T951M) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a C to T substitution at nucleotide position 2852, causing the threonine (T) at amino acid position 951 to be replaced by a methionine (M). 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.