The c.2813A>G (p.N938S) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a A to G substitution at nucleotide position 2813, causing the asparagine (N) at amino acid position 938 to be replaced by a serine (S). 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.2879A>G (p.Asn960Ser)
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.2879A>G (p.Asn960Ser)
Variation ID: 2407023 Accession: VCV002407023.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 140668387 (GRCh38) [ NCBI UCSC ] 8: 141678486 (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 Aug 10, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352702.2:c.2879A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Asn960Ser missense NM_001199649.2:c.2786A>G NP_001186578.1:p.Asn929Ser missense NM_001316342.2:c.2456A>G NP_001303271.1:p.Asn819Ser missense NM_001352694.2:c.2747A>G NP_001339623.1:p.Asn916Ser missense NM_001352695.2:c.2786A>G NP_001339624.1:p.Asn929Ser missense NM_001352696.2:c.2456A>G NP_001339625.1:p.Asn819Ser missense NM_001352697.2:c.2939A>G NP_001339626.1:p.Asn980Ser missense NM_001352698.2:c.2918A>G NP_001339627.1:p.Asn973Ser missense NM_001352699.2:c.2879A>G NP_001339628.1:p.Asn960Ser missense NM_001352700.2:c.2879A>G NP_001339629.1:p.Asn960Ser missense NM_001352701.2:c.2879A>G NP_001339630.1:p.Asn960Ser missense NM_001352703.2:c.2879A>G NP_001339632.1:p.Asn960Ser missense NM_001352704.2:c.2858A>G NP_001339633.1:p.Asn953Ser missense NM_001352705.2:c.2834A>G NP_001339634.1:p.Asn945Ser missense NM_001352706.2:c.2795A>G NP_001339635.1:p.Asn932Ser missense NM_001352707.2:c.2795A>G NP_001339636.1:p.Asn932Ser missense NM_001352708.2:c.2795A>G NP_001339637.1:p.Asn932Ser missense NM_001352709.2:c.2795A>G NP_001339638.1:p.Asn932Ser missense NM_001352710.2:c.2795A>G NP_001339639.1:p.Asn932Ser missense NM_001352711.2:c.2792A>G NP_001339640.1:p.Asn931Ser missense NM_001352712.2:c.2870A>G NP_001339641.1:p.Asn957Ser missense NM_001352713.2:c.2777A>G NP_001339642.1:p.Asn926Ser missense NM_001352714.2:c.2777A>G NP_001339643.1:p.Asn926Ser missense NM_001352715.2:c.2774A>G NP_001339644.1:p.Asn925Ser missense NM_001352716.2:c.2771A>G NP_001339645.1:p.Asn924Ser missense NM_001352717.2:c.2765A>G NP_001339646.1:p.Asn922Ser missense NM_001352718.2:c.2756A>G NP_001339647.1:p.Asn919Ser missense NM_001352719.2:c.2756A>G NP_001339648.1:p.Asn919Ser missense NM_001352720.2:c.2756A>G NP_001339649.1:p.Asn919Ser missense NM_001352721.2:c.2732A>G NP_001339650.1:p.Asn911Ser missense NM_001352722.2:c.2732A>G NP_001339651.1:p.Asn911Ser missense NM_001352723.2:c.2732A>G NP_001339652.1:p.Asn911Ser missense NM_001352724.2:c.2795A>G NP_001339653.1:p.Asn932Ser missense NM_001352725.2:c.2693A>G NP_001339654.1:p.Asn898Ser missense NM_001352726.2:c.2687A>G NP_001339655.1:p.Asn896Ser missense NM_001352727.2:c.2732A>G NP_001339656.1:p.Asn911Ser missense NM_001352728.2:c.2639A>G NP_001339657.1:p.Asn880Ser missense NM_001352729.2:c.2624A>G NP_001339658.1:p.Asn875Ser missense NM_001352730.2:c.2540A>G NP_001339659.1:p.Asn847Ser missense NM_001352731.2:c.2534A>G NP_001339660.1:p.Asn845Ser missense NM_001352732.2:c.2531A>G NP_001339661.1:p.Asn844Ser missense NM_001352733.2:c.2519A>G NP_001339662.1:p.Asn840Ser missense NM_001352734.2:c.2477A>G NP_001339663.1:p.Asn826Ser missense NM_001352735.2:c.2477A>G NP_001339664.1:p.Asn826Ser missense NM_001352736.2:c.2471A>G NP_001339665.1:p.Asn824Ser missense NM_001352737.2:c.2510A>G NP_001339666.1:p.Asn837Ser missense NM_001352738.2:c.2450A>G NP_001339667.1:p.Asn817Ser missense NM_001352739.2:c.2438A>G NP_001339668.1:p.Asn813Ser missense NM_001352740.2:c.2435A>G NP_001339669.1:p.Asn812Ser missense NM_001352741.2:c.2417A>G NP_001339670.1:p.Asn806Ser missense NM_001352742.2:c.2393A>G NP_001339671.1:p.Asn798Ser missense NM_001352743.2:c.2393A>G NP_001339672.1:p.Asn798Ser missense NM_001352744.2:c.2348A>G NP_001339673.1:p.Asn783Ser missense NM_001352745.2:c.2330A>G NP_001339674.1:p.Asn777Ser missense NM_001352746.2:c.2285A>G NP_001339675.1:p.Asn762Ser missense NM_001352747.2:c.1334A>G NP_001339676.1:p.Asn445Ser missense NM_001352749.2:c.686A>G NP_001339678.1:p.Asn229Ser missense NM_001352750.2:c.677A>G NP_001339679.1:p.Asn226Ser missense NM_001352751.2:c.623A>G NP_001339680.1:p.Asn208Ser missense NM_001352752.2:c.614A>G NP_001339681.1:p.Asn205Ser missense NM_001387584.1:c.2408A>G NP_001374513.1:p.Asn803Ser missense NM_001387585.1:c.2684A>G NP_001374514.1:p.Asn895Ser missense NM_001387586.1:c.2747A>G NP_001374515.1:p.Asn916Ser missense NM_001387587.1:c.2747A>G NP_001374516.1:p.Asn916Ser missense NM_001387590.1:c.2300A>G NP_001374519.1:p.Asn767Ser missense NM_001387591.1:c.2345A>G NP_001374520.1:p.Asn782Ser missense NM_001387592.1:c.1805A>G NP_001374521.1:p.Asn602Ser missense NM_001387603.1:c.2354A>G NP_001374532.1:p.Asn785Ser missense NM_001387604.1:c.1814A>G NP_001374533.1:p.Asn605Ser missense NM_001387605.1:c.2408A>G NP_001374534.1:p.Asn803Ser missense NM_001387606.1:c.2438A>G NP_001374535.1:p.Asn813Ser missense NM_001387607.1:c.2447A>G NP_001374536.1:p.Asn816Ser missense NM_001387608.1:c.2408A>G NP_001374537.1:p.Asn803Ser missense NM_001387609.1:c.2417A>G NP_001374538.1:p.Asn806Ser missense NM_001387610.1:c.2225A>G NP_001374539.1:p.Asn742Ser missense NM_001387611.1:c.2426A>G NP_001374540.1:p.Asn809Ser missense NM_001387612.1:c.2408A>G NP_001374541.1:p.Asn803Ser missense NM_001387613.1:c.2417A>G NP_001374542.1:p.Asn806Ser missense NM_001387614.1:c.2684A>G NP_001374543.1:p.Asn895Ser missense NM_001387615.1:c.2687A>G NP_001374544.1:p.Asn896Ser missense NM_001387616.1:c.1805A>G NP_001374545.1:p.Asn602Ser missense NM_001387617.1:c.1805A>G NP_001374546.1:p.Asn602Ser missense NM_001387618.1:c.2408A>G NP_001374547.1:p.Asn803Ser missense NM_001387619.1:c.2639A>G NP_001374548.1:p.Asn880Ser missense NM_001387620.1:c.2456A>G NP_001374549.1:p.Asn819Ser missense NM_001387621.1:c.1805A>G NP_001374550.1:p.Asn602Ser missense NM_001387622.1:c.2765A>G NP_001374551.1:p.Asn922Ser missense NM_001387623.1:c.2408A>G NP_001374552.1:p.Asn803Ser missense NM_001387624.1:c.2771A>G NP_001374553.1:p.Asn924Ser missense NM_001387625.1:c.2693A>G NP_001374554.1:p.Asn898Ser missense NM_001387627.1:c.2702A>G NP_001374556.1:p.Asn901Ser missense NM_001387628.1:c.2747A>G NP_001374557.1:p.Asn916Ser missense NM_001387629.1:c.1832A>G NP_001374558.1:p.Asn611Ser missense NM_001387630.1:c.2225A>G NP_001374559.1:p.Asn742Ser missense NM_001387631.1:c.2771A>G NP_001374560.1:p.Asn924Ser missense NM_001387632.1:c.2684A>G NP_001374561.1:p.Asn895Ser missense NM_001387633.1:c.2714A>G NP_001374562.1:p.Asn905Ser missense NM_001387634.1:c.2774A>G NP_001374563.1:p.Asn925Ser missense NM_001387635.1:c.2300A>G NP_001374564.1:p.Asn767Ser missense NM_001387636.1:c.2747A>G NP_001374565.1:p.Asn916Ser missense NM_001387637.1:c.2747A>G NP_001374566.1:p.Asn916Ser missense NM_001387638.1:c.2756A>G NP_001374567.1:p.Asn919Ser missense NM_001387639.1:c.2795A>G NP_001374568.1:p.Asn932Ser missense NM_001387640.1:c.2816A>G NP_001374569.1:p.Asn939Ser missense NM_001387641.1:c.2786A>G NP_001374570.1:p.Asn929Ser missense NM_001387642.1:c.2747A>G NP_001374571.1:p.Asn916Ser missense NM_001387643.1:c.2879A>G NP_001374572.1:p.Asn960Ser missense NM_001387644.1:c.2897A>G NP_001374573.1:p.Asn966Ser missense NM_001387645.1:c.2747A>G NP_001374574.1:p.Asn916Ser missense NM_001387646.1:c.2879A>G NP_001374575.1:p.Asn960Ser missense NM_001387647.1:c.2747A>G NP_001374576.1:p.Asn916Ser missense NM_001387648.1:c.2879A>G NP_001374577.1:p.Asn960Ser missense NM_001387649.1:c.2927A>G NP_001374578.1:p.Asn976Ser missense NM_001387650.1:c.2879A>G NP_001374579.1:p.Asn960Ser missense NM_001387652.1:c.2408A>G NP_001374581.1:p.Asn803Ser missense NM_001387653.1:c.2639A>G NP_001374582.1:p.Asn880Ser missense NM_001387654.1:c.2408A>G NP_001374583.1:p.Asn803Ser missense NM_001387655.1:c.2747A>G NP_001374584.1:p.Asn916Ser missense NM_001387656.1:c.2693A>G NP_001374585.1:p.Asn898Ser missense NM_001387657.1:c.2747A>G NP_001374586.1:p.Asn916Ser missense NM_001387658.1:c.2747A>G NP_001374587.1:p.Asn916Ser missense NM_001387659.1:c.2756A>G NP_001374588.1:p.Asn919Ser missense NM_001387660.1:c.2879A>G NP_001374589.1:p.Asn960Ser missense NM_001387661.1:c.2879A>G NP_001374590.1:p.Asn960Ser missense NM_001387662.1:c.2888A>G NP_001374591.1:p.Asn963Ser missense NM_005607.5:c.2813A>G NP_005598.3:p.Asn938Ser missense NM_153831.4:c.2747A>G NP_722560.1:p.Asn916Ser missense NR_148036.2:n.3046A>G non-coding transcript variant NR_148037.2:n.3077A>G non-coding transcript variant NR_148038.2:n.2795A>G non-coding transcript variant NR_148039.2:n.2687A>G non-coding transcript variant NR_170671.1:n.2658A>G non-coding transcript variant NR_170672.1:n.2825A>G non-coding transcript variant NR_170673.1:n.3035A>G non-coding transcript variant NC_000008.11:g.140668387T>C NC_000008.10:g.141678486T>C NG_029467.2:g.337927A>G - Protein change
- N205S, N229S, N785S, N809S, N819S, N875S, N895S, N896S, N916S, N926S, N976S, N208S, N445S, N611S, N777S, N813S, N816S, N824S, N837S, N929S, N931S, N932S, N957S, N960S, N762S, N783S, N817S, N826S, N845S, N880S, N898S, N911S, N922S, N925S, N938S, N939S, N963S, N966S, N973S, N980S, N226S, N602S, N605S, N742S, N767S, N782S, N798S, N803S, N806S, N812S, N840S, N844S, N847S, N901S, N905S, N919S, N924S, N945S, N953S
- Other names
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- Canonical SPDI
- NC_000008.11:140668386:T: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
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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Aug 10, 2021 | RCV004241947.1 |
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
(Aug 10, 2021)
|
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: SCV003750753.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.2813A>G (p.N938S) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a A to G substitution … (more)
The c.2813A>G (p.N938S) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a A to G substitution at nucleotide position 2813, causing the asparagine (N) at amino acid position 938 to be replaced by a serine (S). 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.2813A>G (p.N938S) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a A to G substitution at nucleotide position 2813, causing the asparagine (N) at amino acid position 938 to be replaced by a serine (S). 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.