The c.507C>G (p.F169L) alteration is located in exon 5 (coding exon 4) of the PTK2 gene. This alteration results from a C to G substitution at nucleotide position 507, causing the phenylalanine (F) at amino acid position 169 to be replaced by a leucine (L). 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.441C>G (p.Phe147Leu)
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.441C>G (p.Phe147Leu)
Variation ID: 2267255 Accession: VCV002267255.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 140864321 (GRCh38) [ NCBI UCSC ] 8: 141874420 (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 Dec 14, 2021 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352702.2:c.441C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Phe147Leu missense NM_001199649.2:c.441C>G NP_001186578.1:p.Phe147Leu missense NM_001316342.2:c.102C>G NP_001303271.1:p.Phe34Leu missense NM_001352694.2:c.441C>G NP_001339623.1:p.Phe147Leu missense NM_001352695.2:c.441C>G NP_001339624.1:p.Phe147Leu missense NM_001352696.2:c.102C>G NP_001339625.1:p.Phe34Leu missense NM_001352697.2:c.573C>G NP_001339626.1:p.Phe191Leu missense NM_001352698.2:c.480C>G NP_001339627.1:p.Phe160Leu missense NM_001352699.2:c.441C>G NP_001339628.1:p.Phe147Leu missense NM_001352700.2:c.441C>G NP_001339629.1:p.Phe147Leu missense NM_001352701.2:c.441C>G NP_001339630.1:p.Phe147Leu missense NM_001352703.2:c.441C>G NP_001339632.1:p.Phe147Leu missense NM_001352704.2:c.441C>G NP_001339633.1:p.Phe147Leu missense NM_001352705.2:c.480C>G NP_001339634.1:p.Phe160Leu missense NM_001352706.2:c.441C>G NP_001339635.1:p.Phe147Leu missense NM_001352707.2:c.441C>G NP_001339636.1:p.Phe147Leu missense NM_001352708.2:c.441C>G NP_001339637.1:p.Phe147Leu missense NM_001352709.2:c.441C>G NP_001339638.1:p.Phe147Leu missense NM_001352710.2:c.441C>G NP_001339639.1:p.Phe147Leu missense NM_001352711.2:c.441C>G NP_001339640.1:p.Phe147Leu missense NM_001352712.2:c.441C>G NP_001339641.1:p.Phe147Leu missense NM_001352713.2:c.441C>G NP_001339642.1:p.Phe147Leu missense NM_001352714.2:c.441C>G NP_001339643.1:p.Phe147Leu missense NM_001352715.2:c.441C>G NP_001339644.1:p.Phe147Leu missense NM_001352716.2:c.441C>G NP_001339645.1:p.Phe147Leu missense NM_001352717.2:c.441C>G NP_001339646.1:p.Phe147Leu missense NM_001352718.2:c.441C>G NP_001339647.1:p.Phe147Leu missense NM_001352719.2:c.441C>G NP_001339648.1:p.Phe147Leu missense NM_001352720.2:c.441C>G NP_001339649.1:p.Phe147Leu missense NM_001352721.2:c.441C>G NP_001339650.1:p.Phe147Leu missense NM_001352722.2:c.441C>G NP_001339651.1:p.Phe147Leu missense NM_001352723.2:c.441C>G NP_001339652.1:p.Phe147Leu missense NM_001352724.2:c.441C>G NP_001339653.1:p.Phe147Leu missense NM_001352725.2:c.441C>G NP_001339654.1:p.Phe147Leu missense NM_001352726.2:c.441C>G NP_001339655.1:p.Phe147Leu missense NM_001352727.2:c.441C>G NP_001339656.1:p.Phe147Leu missense NM_001352728.2:c.441C>G NP_001339657.1:p.Phe147Leu missense NM_001352729.2:c.441C>G NP_001339658.1:p.Phe147Leu missense NM_001352730.2:c.102C>G NP_001339659.1:p.Phe34Leu missense NM_001352731.2:c.102C>G NP_001339660.1:p.Phe34Leu missense NM_001352732.2:c.102C>G NP_001339661.1:p.Phe34Leu missense NM_001352733.2:c.102C>G NP_001339662.1:p.Phe34Leu missense NM_001352734.2:c.102C>G NP_001339663.1:p.Phe34Leu missense NM_001352735.2:c.102C>G NP_001339664.1:p.Phe34Leu missense NM_001352736.2:c.138C>G NP_001339665.1:p.Phe46Leu missense NM_001352737.2:c.102C>G NP_001339666.1:p.Phe34Leu missense NM_001352738.2:c.102C>G NP_001339667.1:p.Phe34Leu missense NM_001352739.2:c.102C>G NP_001339668.1:p.Phe34Leu missense NM_001352740.2:c.102C>G NP_001339669.1:p.Phe34Leu missense NM_001352741.2:c.102C>G NP_001339670.1:p.Phe34Leu missense NM_001352742.2:c.102C>G NP_001339671.1:p.Phe34Leu missense NM_001352743.2:c.102C>G NP_001339672.1:p.Phe34Leu missense NM_001352744.2:c.102C>G NP_001339673.1:p.Phe34Leu missense NM_001352745.2:c.102C>G NP_001339674.1:p.Phe34Leu missense NM_001352746.2:c.102C>G NP_001339675.1:p.Phe34Leu missense NM_001352747.2:c.-1199C>G 5 prime UTR NM_001352748.2:c.441C>G NP_001339677.1:p.Phe147Leu missense NM_001387584.1:c.102C>G NP_001374513.1:p.Phe34Leu missense NM_001387585.1:c.441C>G NP_001374514.1:p.Phe147Leu missense NM_001387586.1:c.441C>G NP_001374515.1:p.Phe147Leu missense NM_001387587.1:c.441C>G NP_001374516.1:p.Phe147Leu missense NM_001387590.1:c.102C>G NP_001374519.1:p.Phe34Leu missense NM_001387591.1:c.102C>G NP_001374520.1:p.Phe34Leu missense NM_001387592.1:c.-447C>G 5 prime UTR NM_001387603.1:c.102C>G NP_001374532.1:p.Phe34Leu missense NM_001387604.1:c.-447C>G 5 prime UTR NM_001387605.1:c.102C>G NP_001374534.1:p.Phe34Leu missense NM_001387606.1:c.102C>G NP_001374535.1:p.Phe34Leu missense NM_001387607.1:c.102C>G NP_001374536.1:p.Phe34Leu missense NM_001387608.1:c.102C>G NP_001374537.1:p.Phe34Leu missense NM_001387609.1:c.102C>G NP_001374538.1:p.Phe34Leu missense NM_001387610.1:c.-156C>G 5 prime UTR NM_001387611.1:c.102C>G NP_001374540.1:p.Phe34Leu missense NM_001387612.1:c.102C>G NP_001374541.1:p.Phe34Leu missense NM_001387613.1:c.102C>G NP_001374542.1:p.Phe34Leu missense NM_001387614.1:c.441C>G NP_001374543.1:p.Phe147Leu missense NM_001387615.1:c.441C>G NP_001374544.1:p.Phe147Leu missense NM_001387616.1:c.-447C>G 5 prime UTR NM_001387617.1:c.-447C>G 5 prime UTR NM_001387618.1:c.102C>G NP_001374547.1:p.Phe34Leu missense NM_001387619.1:c.441C>G NP_001374548.1:p.Phe147Leu missense NM_001387620.1:c.102C>G NP_001374549.1:p.Phe34Leu missense NM_001387621.1:c.-447C>G 5 prime UTR NM_001387622.1:c.441C>G NP_001374551.1:p.Phe147Leu missense NM_001387623.1:c.102C>G NP_001374552.1:p.Phe34Leu missense NM_001387624.1:c.441C>G NP_001374553.1:p.Phe147Leu missense NM_001387625.1:c.441C>G NP_001374554.1:p.Phe147Leu missense NM_001387627.1:c.441C>G NP_001374556.1:p.Phe147Leu missense NM_001387628.1:c.441C>G NP_001374557.1:p.Phe147Leu missense NM_001387629.1:c.-447C>G 5 prime UTR NM_001387630.1:c.-156C>G 5 prime UTR NM_001387631.1:c.441C>G NP_001374560.1:p.Phe147Leu missense NM_001387632.1:c.441C>G NP_001374561.1:p.Phe147Leu missense NM_001387633.1:c.441C>G NP_001374562.1:p.Phe147Leu missense NM_001387634.1:c.441C>G NP_001374563.1:p.Phe147Leu missense NM_001387635.1:c.102C>G NP_001374564.1:p.Phe34Leu missense NM_001387636.1:c.441C>G NP_001374565.1:p.Phe147Leu missense NM_001387637.1:c.441C>G NP_001374566.1:p.Phe147Leu missense NM_001387638.1:c.441C>G NP_001374567.1:p.Phe147Leu missense NM_001387639.1:c.441C>G NP_001374568.1:p.Phe147Leu missense NM_001387640.1:c.441C>G NP_001374569.1:p.Phe147Leu missense NM_001387641.1:c.480C>G NP_001374570.1:p.Phe160Leu missense NM_001387642.1:c.441C>G NP_001374571.1:p.Phe147Leu missense NM_001387643.1:c.573C>G NP_001374572.1:p.Phe191Leu missense NM_001387644.1:c.480C>G NP_001374573.1:p.Phe160Leu missense NM_001387645.1:c.441C>G NP_001374574.1:p.Phe147Leu missense NM_001387646.1:c.573C>G NP_001374575.1:p.Phe191Leu missense NM_001387647.1:c.441C>G NP_001374576.1:p.Phe147Leu missense NM_001387648.1:c.573C>G NP_001374577.1:p.Phe191Leu missense NM_001387649.1:c.573C>G NP_001374578.1:p.Phe191Leu missense NM_001387650.1:c.573C>G NP_001374579.1:p.Phe191Leu missense NM_001387652.1:c.102C>G NP_001374581.1:p.Phe34Leu missense NM_001387653.1:c.441C>G NP_001374582.1:p.Phe147Leu missense NM_001387654.1:c.102C>G NP_001374583.1:p.Phe34Leu missense NM_001387655.1:c.441C>G NP_001374584.1:p.Phe147Leu missense NM_001387656.1:c.441C>G NP_001374585.1:p.Phe147Leu missense NM_001387657.1:c.441C>G NP_001374586.1:p.Phe147Leu missense NM_001387658.1:c.441C>G NP_001374587.1:p.Phe147Leu missense NM_001387659.1:c.441C>G NP_001374588.1:p.Phe147Leu missense NM_001387660.1:c.573C>G NP_001374589.1:p.Phe191Leu missense NM_001387661.1:c.573C>G NP_001374590.1:p.Phe191Leu missense NM_001387662.1:c.573C>G NP_001374591.1:p.Phe191Leu missense NM_005607.5:c.507C>G NP_005598.3:p.Phe169Leu missense NM_153831.4:c.441C>G NP_722560.1:p.Phe147Leu missense NR_148036.2:n.720C>G non-coding transcript variant NR_148037.2:n.835C>G non-coding transcript variant NR_148038.2:n.553C>G non-coding transcript variant NR_148039.2:n.553C>G non-coding transcript variant NR_170671.1:n.464C>G non-coding transcript variant NR_170672.1:n.631C>G non-coding transcript variant NR_170673.1:n.631C>G non-coding transcript variant NC_000008.11:g.140864321G>C NC_000008.10:g.141874420G>C NG_029467.2:g.141993C>G - Protein change
- F34L, F147L, F191L, F160L, F169L, F46L
- Other names
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- Canonical SPDI
- NC_000008.11:140864320: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
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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Dec 14, 2021 | RCV004116979.1 |
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
(Dec 14, 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: SCV003595962.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.507C>G (p.F169L) alteration is located in exon 5 (coding exon 4) of the PTK2 gene. This alteration results from a C to G substitution … (more)
The c.507C>G (p.F169L) alteration is located in exon 5 (coding exon 4) of the PTK2 gene. This alteration results from a C to G substitution at nucleotide position 507, causing the phenylalanine (F) at amino acid position 169 to be replaced by a leucine (L). 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.507C>G (p.F169L) alteration is located in exon 5 (coding exon 4) of the PTK2 gene. This alteration results from a C to G substitution at nucleotide position 507, causing the phenylalanine (F) at amino acid position 169 to be replaced by a leucine (L). 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.