The c.1592C>T (p.S531L) alteration is located in exon 19 (coding exon 18) of the PTK2 gene. This alteration results from a C to T substitution at nucleotide position 1592, causing the serine (S) at amino acid position 531 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.1649C>T (p.Ser550Leu)
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.1649C>T (p.Ser550Leu)
Variation ID: 2540762 Accession: VCV002540762.2
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 8q24.3 8: 140744760 (GRCh38) [ NCBI UCSC ] 8: 141754859 (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 Apr 26, 2023 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352702.2:c.1649C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Ser550Leu missense NM_001199649.2:c.1526C>T NP_001186578.1:p.Ser509Leu missense NM_001316342.2:c.1226C>T NP_001303271.1:p.Ser409Leu missense NM_001352694.2:c.1526C>T NP_001339623.1:p.Ser509Leu missense NM_001352695.2:c.1628C>T NP_001339624.1:p.Ser543Leu missense NM_001352696.2:c.1226C>T NP_001339625.1:p.Ser409Leu missense NM_001352697.2:c.1781C>T NP_001339626.1:p.Ser594Leu missense NM_001352698.2:c.1688C>T NP_001339627.1:p.Ser563Leu missense NM_001352699.2:c.1649C>T NP_001339628.1:p.Ser550Leu missense NM_001352700.2:c.1649C>T NP_001339629.1:p.Ser550Leu missense NM_001352701.2:c.1649C>T NP_001339630.1:p.Ser550Leu missense NM_001352703.2:c.1649C>T NP_001339632.1:p.Ser550Leu missense NM_001352704.2:c.1628C>T NP_001339633.1:p.Ser543Leu missense NM_001352705.2:c.1604C>T NP_001339634.1:p.Ser535Leu missense NM_001352706.2:c.1565C>T NP_001339635.1:p.Ser522Leu missense NM_001352707.2:c.1565C>T NP_001339636.1:p.Ser522Leu missense NM_001352708.2:c.1565C>T NP_001339637.1:p.Ser522Leu missense NM_001352709.2:c.1565C>T NP_001339638.1:p.Ser522Leu missense NM_001352710.2:c.1565C>T NP_001339639.1:p.Ser522Leu missense NM_001352711.2:c.1562C>T NP_001339640.1:p.Ser521Leu missense NM_001352712.2:c.1649C>T NP_001339641.1:p.Ser550Leu missense NM_001352713.2:c.1547C>T NP_001339642.1:p.Ser516Leu missense NM_001352714.2:c.1547C>T NP_001339643.1:p.Ser516Leu missense NM_001352715.2:c.1544C>T NP_001339644.1:p.Ser515Leu missense NM_001352716.2:c.1541C>T NP_001339645.1:p.Ser514Leu missense NM_001352717.2:c.1544C>T NP_001339646.1:p.Ser515Leu missense NM_001352718.2:c.1526C>T NP_001339647.1:p.Ser509Leu missense NM_001352719.2:c.1526C>T NP_001339648.1:p.Ser509Leu missense NM_001352720.2:c.1526C>T NP_001339649.1:p.Ser509Leu missense NM_001352721.2:c.1565C>T NP_001339650.1:p.Ser522Leu missense NM_001352722.2:c.1565C>T NP_001339651.1:p.Ser522Leu missense NM_001352723.2:c.1565C>T NP_001339652.1:p.Ser522Leu missense NM_001352724.2:c.1565C>T NP_001339653.1:p.Ser522Leu missense NM_001352725.2:c.1526C>T NP_001339654.1:p.Ser509Leu missense NM_001352726.2:c.1457C>T NP_001339655.1:p.Ser486Leu missense NM_001352727.2:c.1565C>T NP_001339656.1:p.Ser522Leu missense NM_001352728.2:c.1418C>T NP_001339657.1:p.Ser473Leu missense NM_001352729.2:c.1457C>T NP_001339658.1:p.Ser486Leu missense NM_001352730.2:c.1310C>T NP_001339659.1:p.Ser437Leu missense NM_001352731.2:c.1310C>T NP_001339660.1:p.Ser437Leu missense NM_001352732.2:c.1310C>T NP_001339661.1:p.Ser437Leu missense NM_001352733.2:c.1289C>T NP_001339662.1:p.Ser430Leu missense NM_001352734.2:c.1310C>T NP_001339663.1:p.Ser437Leu missense NM_001352735.2:c.1247C>T NP_001339664.1:p.Ser416Leu missense NM_001352736.2:c.1241C>T NP_001339665.1:p.Ser414Leu missense NM_001352737.2:c.1289C>T NP_001339666.1:p.Ser430Leu missense NM_001352738.2:c.1226C>T NP_001339667.1:p.Ser409Leu missense NM_001352739.2:c.1208C>T NP_001339668.1:p.Ser403Leu missense NM_001352740.2:c.1205C>T NP_001339669.1:p.Ser402Leu missense NM_001352741.2:c.1187C>T NP_001339670.1:p.Ser396Leu missense NM_001352742.2:c.1163C>T NP_001339671.1:p.Ser388Leu missense NM_001352743.2:c.1226C>T NP_001339672.1:p.Ser409Leu missense NM_001352744.2:c.1118C>T NP_001339673.1:p.Ser373Leu missense NM_001352745.2:c.1100C>T NP_001339674.1:p.Ser367Leu missense NM_001352746.2:c.1055C>T NP_001339675.1:p.Ser352Leu missense NM_001352747.2:c.104C>T NP_001339676.1:p.Ser35Leu missense NM_001387584.1:c.1187C>T NP_001374513.1:p.Ser396Leu missense NM_001387585.1:c.1526C>T NP_001374514.1:p.Ser509Leu missense NM_001387586.1:c.1526C>T NP_001374515.1:p.Ser509Leu missense NM_001387587.1:c.1526C>T NP_001374516.1:p.Ser509Leu missense NM_001387590.1:c.1079C>T NP_001374519.1:p.Ser360Leu missense NM_001387591.1:c.1187C>T NP_001374520.1:p.Ser396Leu missense NM_001387592.1:c.584C>T NP_001374521.1:p.Ser195Leu missense NM_001387603.1:c.1187C>T NP_001374532.1:p.Ser396Leu missense NM_001387604.1:c.584C>T NP_001374533.1:p.Ser195Leu missense NM_001387605.1:c.1187C>T NP_001374534.1:p.Ser396Leu missense NM_001387606.1:c.1208C>T NP_001374535.1:p.Ser403Leu missense NM_001387607.1:c.1226C>T NP_001374536.1:p.Ser409Leu missense NM_001387608.1:c.1187C>T NP_001374537.1:p.Ser396Leu missense NM_001387609.1:c.1187C>T NP_001374538.1:p.Ser396Leu missense NM_001387610.1:c.1004C>T NP_001374539.1:p.Ser335Leu missense NM_001387611.1:c.1205C>T NP_001374540.1:p.Ser402Leu missense NM_001387612.1:c.1187C>T NP_001374541.1:p.Ser396Leu missense NM_001387613.1:c.1187C>T NP_001374542.1:p.Ser396Leu missense NM_001387614.1:c.1526C>T NP_001374543.1:p.Ser509Leu missense NM_001387615.1:c.1457C>T NP_001374544.1:p.Ser486Leu missense NM_001387616.1:c.584C>T NP_001374545.1:p.Ser195Leu missense NM_001387617.1:c.584C>T NP_001374546.1:p.Ser195Leu missense NM_001387618.1:c.1187C>T NP_001374547.1:p.Ser396Leu missense NM_001387619.1:c.1418C>T NP_001374548.1:p.Ser473Leu missense NM_001387620.1:c.1226C>T NP_001374549.1:p.Ser409Leu missense NM_001387621.1:c.584C>T NP_001374550.1:p.Ser195Leu missense NM_001387622.1:c.1544C>T NP_001374551.1:p.Ser515Leu missense NM_001387623.1:c.1187C>T NP_001374552.1:p.Ser396Leu missense NM_001387624.1:c.1541C>T NP_001374553.1:p.Ser514Leu missense NM_001387625.1:c.1526C>T NP_001374554.1:p.Ser509Leu missense NM_001387627.1:c.1544C>T NP_001374556.1:p.Ser515Leu missense NM_001387628.1:c.1526C>T NP_001374557.1:p.Ser509Leu missense NM_001387629.1:c.602C>T NP_001374558.1:p.Ser201Leu missense NM_001387630.1:c.1004C>T NP_001374559.1:p.Ser335Leu missense NM_001387631.1:c.1541C>T NP_001374560.1:p.Ser514Leu missense NM_001387632.1:c.1526C>T NP_001374561.1:p.Ser509Leu missense NM_001387633.1:c.1547C>T NP_001374562.1:p.Ser516Leu missense NM_001387634.1:c.1544C>T NP_001374563.1:p.Ser515Leu missense NM_001387635.1:c.1079C>T NP_001374564.1:p.Ser360Leu missense NM_001387636.1:c.1526C>T NP_001374565.1:p.Ser509Leu missense NM_001387637.1:c.1526C>T NP_001374566.1:p.Ser509Leu missense NM_001387638.1:c.1526C>T NP_001374567.1:p.Ser509Leu missense NM_001387639.1:c.1565C>T NP_001374568.1:p.Ser522Leu missense NM_001387640.1:c.1649C>T NP_001374569.1:p.Ser550Leu missense NM_001387641.1:c.1565C>T NP_001374570.1:p.Ser522Leu missense NM_001387642.1:c.1526C>T NP_001374571.1:p.Ser509Leu missense NM_001387643.1:c.1658C>T NP_001374572.1:p.Ser553Leu missense NM_001387644.1:c.1667C>T NP_001374573.1:p.Ser556Leu missense NM_001387645.1:c.1526C>T NP_001374574.1:p.Ser509Leu missense NM_001387646.1:c.1658C>T NP_001374575.1:p.Ser553Leu missense NM_001387647.1:c.1526C>T NP_001374576.1:p.Ser509Leu missense NM_001387648.1:c.1658C>T NP_001374577.1:p.Ser553Leu missense NM_001387649.1:c.1697C>T NP_001374578.1:p.Ser566Leu missense NM_001387650.1:c.1658C>T NP_001374579.1:p.Ser553Leu missense NM_001387652.1:c.1187C>T NP_001374581.1:p.Ser396Leu missense NM_001387653.1:c.1418C>T NP_001374582.1:p.Ser473Leu missense NM_001387654.1:c.1187C>T NP_001374583.1:p.Ser396Leu missense NM_001387655.1:c.1526C>T NP_001374584.1:p.Ser509Leu missense NM_001387656.1:c.1526C>T NP_001374585.1:p.Ser509Leu missense NM_001387657.1:c.1526C>T NP_001374586.1:p.Ser509Leu missense NM_001387658.1:c.1526C>T NP_001374587.1:p.Ser509Leu missense NM_001387659.1:c.1526C>T NP_001374588.1:p.Ser509Leu missense NM_001387660.1:c.1658C>T NP_001374589.1:p.Ser553Leu missense NM_001387661.1:c.1658C>T NP_001374590.1:p.Ser553Leu missense NM_001387662.1:c.1658C>T NP_001374591.1:p.Ser553Leu missense NM_005607.5:c.1592C>T NP_005598.3:p.Ser531Leu missense NM_153831.4:c.1526C>T NP_722560.1:p.Ser509Leu missense NR_148036.2:n.1928C>T non-coding transcript variant NR_148037.2:n.1959C>T non-coding transcript variant NR_148038.2:n.1677C>T non-coding transcript variant NR_148039.2:n.1569C>T non-coding transcript variant NR_170671.1:n.1549C>T non-coding transcript variant NR_170672.1:n.1716C>T non-coding transcript variant NR_170673.1:n.1716C>T non-coding transcript variant NC_000008.11:g.140744760G>A NC_000008.10:g.141754859G>A NG_029467.2:g.261554C>T - Protein change
- S335L, S35L, S402L, S416L, S430L, S486L, S516L, S543L, S550L, S553L, S566L, S195L, S201L, S367L, S373L, S403L, S473L, S515L, S535L, S556L, S594L, S409L, S437L, S514L, S522L, S352L, S360L, S388L, S396L, S414L, S509L, S521L, S531L, S563L
- Other names
- -
- Canonical SPDI
- NC_000008.11:140744759: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 |
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
|
Apr 26, 2023 | RCV004313861.1 |
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
(Apr 26, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Affected status: unknown
Allele origin:
germline
|
Ambry Genetics
Accession: SCV003976125.2
First in ClinVar: Jul 08, 2023 Last updated: May 01, 2024 |
Comment:
The c.1592C>T (p.S531L) alteration is located in exon 19 (coding exon 18) of the PTK2 gene. This alteration results from a C to T substitution … (more)
The c.1592C>T (p.S531L) alteration is located in exon 19 (coding exon 18) of the PTK2 gene. This alteration results from a C to T substitution at nucleotide position 1592, causing the serine (S) at amino acid position 531 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.1592C>T (p.S531L) alteration is located in exon 19 (coding exon 18) of the PTK2 gene. This alteration results from a C to T substitution at nucleotide position 1592, causing the serine (S) at amino acid position 531 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.