The c.2330C>T (p.A777V) alteration is located in exon 25 (coding exon 24) of the PTK2 gene. This alteration results from a C to T substitution at nucleotide position 2330, causing the alanine (A) at amino acid position 777 to be replaced by a valine (V). 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.2387C>T (p.Ala796Val)
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.2387C>T (p.Ala796Val)
Variation ID: 3148991 Accession: VCV003148991.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 8q24.3 8: 140702673 (GRCh38) [ NCBI UCSC ] 8: 141712772 (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 May 1, 2024 May 1, 2024 Dec 7, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001352702.2:c.2387C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001339631.1:p.Ala796Val missense NM_001199649.2:c.2264C>T NP_001186578.1:p.Ala755Val missense NM_001316342.2:c.1964C>T NP_001303271.1:p.Ala655Val missense NM_001352694.2:c.2264C>T NP_001339623.1:p.Ala755Val missense NM_001352695.2:c.2366C>T NP_001339624.1:p.Ala789Val missense NM_001352696.2:c.1964C>T NP_001339625.1:p.Ala655Val missense NM_001352697.2:c.2519C>T NP_001339626.1:p.Ala840Val missense NM_001352698.2:c.2426C>T NP_001339627.1:p.Ala809Val missense NM_001352699.2:c.2387C>T NP_001339628.1:p.Ala796Val missense NM_001352700.2:c.2387C>T NP_001339629.1:p.Ala796Val missense NM_001352701.2:c.2387C>T NP_001339630.1:p.Ala796Val missense NM_001352703.2:c.2387C>T NP_001339632.1:p.Ala796Val missense NM_001352704.2:c.2366C>T NP_001339633.1:p.Ala789Val missense NM_001352705.2:c.2342C>T NP_001339634.1:p.Ala781Val missense NM_001352706.2:c.2303C>T NP_001339635.1:p.Ala768Val missense NM_001352707.2:c.2303C>T NP_001339636.1:p.Ala768Val missense NM_001352708.2:c.2303C>T NP_001339637.1:p.Ala768Val missense NM_001352709.2:c.2303C>T NP_001339638.1:p.Ala768Val missense NM_001352710.2:c.2303C>T NP_001339639.1:p.Ala768Val missense NM_001352711.2:c.2300C>T NP_001339640.1:p.Ala767Val missense NM_001352712.2:c.2387C>T NP_001339641.1:p.Ala796Val missense NM_001352713.2:c.2285C>T NP_001339642.1:p.Ala762Val missense NM_001352714.2:c.2285C>T NP_001339643.1:p.Ala762Val missense NM_001352715.2:c.2282C>T NP_001339644.1:p.Ala761Val missense NM_001352716.2:c.2279C>T NP_001339645.1:p.Ala760Val missense NM_001352717.2:c.2282C>T NP_001339646.1:p.Ala761Val missense NM_001352718.2:c.2264C>T NP_001339647.1:p.Ala755Val missense NM_001352719.2:c.2264C>T NP_001339648.1:p.Ala755Val missense NM_001352720.2:c.2264C>T NP_001339649.1:p.Ala755Val missense NM_001352721.2:c.2303C>T NP_001339650.1:p.Ala768Val missense NM_001352722.2:c.2303C>T NP_001339651.1:p.Ala768Val missense NM_001352723.2:c.2303C>T NP_001339652.1:p.Ala768Val missense NM_001352724.2:c.2303C>T NP_001339653.1:p.Ala768Val missense NM_001352725.2:c.2264C>T NP_001339654.1:p.Ala755Val missense NM_001352726.2:c.2195C>T NP_001339655.1:p.Ala732Val missense NM_001352727.2:c.2303C>T NP_001339656.1:p.Ala768Val missense NM_001352728.2:c.2156C>T NP_001339657.1:p.Ala719Val missense NM_001352729.2:c.2195C>T NP_001339658.1:p.Ala732Val missense NM_001352730.2:c.2048C>T NP_001339659.1:p.Ala683Val missense NM_001352731.2:c.2048C>T NP_001339660.1:p.Ala683Val missense NM_001352732.2:c.2048C>T NP_001339661.1:p.Ala683Val missense NM_001352733.2:c.2027C>T NP_001339662.1:p.Ala676Val missense NM_001352734.2:c.2048C>T NP_001339663.1:p.Ala683Val missense NM_001352735.2:c.1985C>T NP_001339664.1:p.Ala662Val missense NM_001352736.2:c.1979C>T NP_001339665.1:p.Ala660Val missense NM_001352737.2:c.2027C>T NP_001339666.1:p.Ala676Val missense NM_001352738.2:c.1964C>T NP_001339667.1:p.Ala655Val missense NM_001352739.2:c.1946C>T NP_001339668.1:p.Ala649Val missense NM_001352740.2:c.1943C>T NP_001339669.1:p.Ala648Val missense NM_001352741.2:c.1925C>T NP_001339670.1:p.Ala642Val missense NM_001352742.2:c.1901C>T NP_001339671.1:p.Ala634Val missense NM_001352743.2:c.1964C>T NP_001339672.1:p.Ala655Val missense NM_001352744.2:c.1856C>T NP_001339673.1:p.Ala619Val missense NM_001352745.2:c.1838C>T NP_001339674.1:p.Ala613Val missense NM_001352746.2:c.1793C>T NP_001339675.1:p.Ala598Val missense NM_001352747.2:c.842C>T NP_001339676.1:p.Ala281Val missense NM_001352749.2:c.194C>T NP_001339678.1:p.Ala65Val missense NM_001352750.2:c.194C>T NP_001339679.1:p.Ala65Val missense NM_001352751.2:c.194C>T NP_001339680.1:p.Ala65Val missense NM_001352752.2:c.194C>T NP_001339681.1:p.Ala65Val missense NM_001387584.1:c.1925C>T NP_001374513.1:p.Ala642Val missense NM_001387585.1:c.2264C>T NP_001374514.1:p.Ala755Val missense NM_001387586.1:c.2264C>T NP_001374515.1:p.Ala755Val missense NM_001387587.1:c.2264C>T NP_001374516.1:p.Ala755Val missense NM_001387590.1:c.1817C>T NP_001374519.1:p.Ala606Val missense NM_001387591.1:c.1925C>T NP_001374520.1:p.Ala642Val missense NM_001387592.1:c.1322C>T NP_001374521.1:p.Ala441Val missense NM_001387603.1:c.1925C>T NP_001374532.1:p.Ala642Val missense NM_001387604.1:c.1322C>T NP_001374533.1:p.Ala441Val missense NM_001387605.1:c.1925C>T NP_001374534.1:p.Ala642Val missense NM_001387606.1:c.1946C>T NP_001374535.1:p.Ala649Val missense NM_001387607.1:c.1964C>T NP_001374536.1:p.Ala655Val missense NM_001387608.1:c.1925C>T NP_001374537.1:p.Ala642Val missense NM_001387609.1:c.1925C>T NP_001374538.1:p.Ala642Val missense NM_001387610.1:c.1742C>T NP_001374539.1:p.Ala581Val missense NM_001387611.1:c.1943C>T NP_001374540.1:p.Ala648Val missense NM_001387612.1:c.1925C>T NP_001374541.1:p.Ala642Val missense NM_001387613.1:c.1925C>T NP_001374542.1:p.Ala642Val missense NM_001387614.1:c.2264C>T NP_001374543.1:p.Ala755Val missense NM_001387615.1:c.2195C>T NP_001374544.1:p.Ala732Val missense NM_001387616.1:c.1322C>T NP_001374545.1:p.Ala441Val missense NM_001387617.1:c.1322C>T NP_001374546.1:p.Ala441Val missense NM_001387618.1:c.1925C>T NP_001374547.1:p.Ala642Val missense NM_001387619.1:c.2156C>T NP_001374548.1:p.Ala719Val missense NM_001387620.1:c.1964C>T NP_001374549.1:p.Ala655Val missense NM_001387621.1:c.1322C>T NP_001374550.1:p.Ala441Val missense NM_001387622.1:c.2282C>T NP_001374551.1:p.Ala761Val missense NM_001387623.1:c.1925C>T NP_001374552.1:p.Ala642Val missense NM_001387624.1:c.2279C>T NP_001374553.1:p.Ala760Val missense NM_001387625.1:c.2264C>T NP_001374554.1:p.Ala755Val missense NM_001387627.1:c.2282C>T NP_001374556.1:p.Ala761Val missense NM_001387628.1:c.2264C>T NP_001374557.1:p.Ala755Val missense NM_001387629.1:c.1340C>T NP_001374558.1:p.Ala447Val missense NM_001387630.1:c.1742C>T NP_001374559.1:p.Ala581Val missense NM_001387631.1:c.2279C>T NP_001374560.1:p.Ala760Val missense NM_001387632.1:c.2264C>T NP_001374561.1:p.Ala755Val missense NM_001387633.1:c.2285C>T NP_001374562.1:p.Ala762Val missense NM_001387634.1:c.2282C>T NP_001374563.1:p.Ala761Val missense NM_001387635.1:c.1817C>T NP_001374564.1:p.Ala606Val missense NM_001387636.1:c.2264C>T NP_001374565.1:p.Ala755Val missense NM_001387637.1:c.2264C>T NP_001374566.1:p.Ala755Val missense NM_001387638.1:c.2264C>T NP_001374567.1:p.Ala755Val missense NM_001387639.1:c.2303C>T NP_001374568.1:p.Ala768Val missense NM_001387640.1:c.2387C>T NP_001374569.1:p.Ala796Val missense NM_001387641.1:c.2303C>T NP_001374570.1:p.Ala768Val missense NM_001387642.1:c.2264C>T NP_001374571.1:p.Ala755Val missense NM_001387643.1:c.2396C>T NP_001374572.1:p.Ala799Val missense NM_001387644.1:c.2405C>T NP_001374573.1:p.Ala802Val missense NM_001387645.1:c.2264C>T NP_001374574.1:p.Ala755Val missense NM_001387646.1:c.2396C>T NP_001374575.1:p.Ala799Val missense NM_001387647.1:c.2264C>T NP_001374576.1:p.Ala755Val missense NM_001387648.1:c.2396C>T NP_001374577.1:p.Ala799Val missense NM_001387649.1:c.2435C>T NP_001374578.1:p.Ala812Val missense NM_001387650.1:c.2396C>T NP_001374579.1:p.Ala799Val missense NM_001387652.1:c.1925C>T NP_001374581.1:p.Ala642Val missense NM_001387653.1:c.2156C>T NP_001374582.1:p.Ala719Val missense NM_001387654.1:c.1925C>T NP_001374583.1:p.Ala642Val missense NM_001387655.1:c.2264C>T NP_001374584.1:p.Ala755Val missense NM_001387656.1:c.2264C>T NP_001374585.1:p.Ala755Val missense NM_001387657.1:c.2264C>T NP_001374586.1:p.Ala755Val missense NM_001387658.1:c.2264C>T NP_001374587.1:p.Ala755Val missense NM_001387659.1:c.2264C>T NP_001374588.1:p.Ala755Val missense NM_001387660.1:c.2396C>T NP_001374589.1:p.Ala799Val missense NM_001387661.1:c.2396C>T NP_001374590.1:p.Ala799Val missense NM_001387662.1:c.2396C>T NP_001374591.1:p.Ala799Val missense NM_005607.5:c.2330C>T NP_005598.3:p.Ala777Val missense NM_153831.4:c.2264C>T NP_722560.1:p.Ala755Val missense NR_148036.2:n.2554C>T non-coding transcript variant NR_148037.2:n.2585C>T non-coding transcript variant NR_148038.2:n.2303C>T non-coding transcript variant NR_148039.2:n.2195C>T non-coding transcript variant NR_170671.1:n.2175C>T non-coding transcript variant NR_170672.1:n.2342C>T non-coding transcript variant NR_170673.1:n.2454C>T non-coding transcript variant NC_000008.11:g.140702673G>A NC_000008.10:g.141712772G>A NG_029467.2:g.303641C>T - Protein change
- A613V, A619V, A660V, A719V, A777V, A812V, A281V, A441V, A581V, A649V, A655V, A65V, A676V, A760V, A761V, A767V, A802V, A840V, A598V, A606V, A642V, A732V, A768V, A781V, A789V, A799V, A447V, A634V, A648V, A662V, A683V, A755V, A762V, A796V, A809V
- Other names
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- Canonical SPDI
- NC_000008.11:140702672:G:A
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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
|
Dec 7, 2023 | RCV004442886.1 |
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 07, 2023)
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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: SCV004934805.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
Comment:
The c.2330C>T (p.A777V) alteration is located in exon 25 (coding exon 24) of the PTK2 gene. This alteration results from a C to T substitution … (more)
The c.2330C>T (p.A777V) alteration is located in exon 25 (coding exon 24) of the PTK2 gene. This alteration results from a C to T substitution at nucleotide position 2330, causing the alanine (A) at amino acid position 777 to be replaced by a valine (V). 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.2330C>T (p.A777V) alteration is located in exon 25 (coding exon 24) of the PTK2 gene. This alteration results from a C to T substitution at nucleotide position 2330, causing the alanine (A) at amino acid position 777 to be replaced by a valine (V). 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 May 08, 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.