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NM_001352702.2(PTK2):c.1007T>C (p.Ile336Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 7, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004238952.1

Allele description

NM_001352702.2(PTK2):c.1007T>C (p.Ile336Thr)

Gene:
PTK2:protein tyrosine kinase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_001352702.2(PTK2):c.1007T>C (p.Ile336Thr)
HGVS:
  • NC_000008.11:g.140800545A>G
  • NG_029467.2:g.205769T>C
  • NM_001199649.2:c.1007T>C
  • NM_001316342.2:c.668T>C
  • NM_001352694.2:c.1007T>C
  • NM_001352695.2:c.1007T>C
  • NM_001352696.2:c.668T>C
  • NM_001352697.2:c.1139T>C
  • NM_001352698.2:c.1046T>C
  • NM_001352699.2:c.1007T>C
  • NM_001352700.2:c.1007T>C
  • NM_001352701.2:c.1007T>C
  • NM_001352702.2:c.1007T>CMANE SELECT
  • NM_001352703.2:c.1007T>C
  • NM_001352704.2:c.1007T>C
  • NM_001352705.2:c.1046T>C
  • NM_001352706.2:c.1007T>C
  • NM_001352707.2:c.1007T>C
  • NM_001352708.2:c.1007T>C
  • NM_001352709.2:c.1007T>C
  • NM_001352710.2:c.1007T>C
  • NM_001352711.2:c.1007T>C
  • NM_001352712.2:c.1007T>C
  • NM_001352713.2:c.1007T>C
  • NM_001352714.2:c.1007T>C
  • NM_001352715.2:c.1007T>C
  • NM_001352716.2:c.899T>C
  • NM_001352717.2:c.1007T>C
  • NM_001352718.2:c.1007T>C
  • NM_001352719.2:c.1007T>C
  • NM_001352720.2:c.1007T>C
  • NM_001352721.2:c.1007T>C
  • NM_001352722.2:c.1007T>C
  • NM_001352723.2:c.1007T>C
  • NM_001352724.2:c.1007T>C
  • NM_001352725.2:c.1007T>C
  • NM_001352726.2:c.899T>C
  • NM_001352727.2:c.1007T>C
  • NM_001352728.2:c.899T>C
  • NM_001352729.2:c.899T>C
  • NM_001352730.2:c.668T>C
  • NM_001352731.2:c.668T>C
  • NM_001352732.2:c.668T>C
  • NM_001352733.2:c.668T>C
  • NM_001352734.2:c.668T>C
  • NM_001352735.2:c.605T>C
  • NM_001352736.2:c.704T>C
  • NM_001352737.2:c.668T>C
  • NM_001352738.2:c.668T>C
  • NM_001352739.2:c.668T>C
  • NM_001352740.2:c.668T>C
  • NM_001352741.2:c.668T>C
  • NM_001352742.2:c.605T>C
  • NM_001352743.2:c.668T>C
  • NM_001352744.2:c.560T>C
  • NM_001352745.2:c.560T>C
  • NM_001352746.2:c.497T>C
  • NM_001352747.2:c.-633T>C
  • NM_001352748.2:c.1007T>C
  • NM_001387584.1:c.668T>C
  • NM_001387585.1:c.1007T>C
  • NM_001387586.1:c.1007T>C
  • NM_001387587.1:c.1007T>C
  • NM_001387590.1:c.560T>C
  • NM_001387591.1:c.668T>C
  • NM_001387592.1:c.65T>C
  • NM_001387603.1:c.668T>C
  • NM_001387604.1:c.65T>C
  • NM_001387605.1:c.668T>C
  • NM_001387606.1:c.668T>C
  • NM_001387607.1:c.668T>C
  • NM_001387608.1:c.668T>C
  • NM_001387609.1:c.668T>C
  • NM_001387610.1:c.485T>C
  • NM_001387611.1:c.668T>C
  • NM_001387612.1:c.668T>C
  • NM_001387613.1:c.668T>C
  • NM_001387614.1:c.1007T>C
  • NM_001387615.1:c.899T>C
  • NM_001387616.1:c.65T>C
  • NM_001387617.1:c.65T>C
  • NM_001387618.1:c.668T>C
  • NM_001387619.1:c.899T>C
  • NM_001387620.1:c.668T>C
  • NM_001387621.1:c.65T>C
  • NM_001387622.1:c.1007T>C
  • NM_001387623.1:c.668T>C
  • NM_001387624.1:c.899T>C
  • NM_001387625.1:c.1007T>C
  • NM_001387627.1:c.1007T>C
  • NM_001387628.1:c.1007T>C
  • NM_001387629.1:c.65T>C
  • NM_001387630.1:c.485T>C
  • NM_001387631.1:c.899T>C
  • NM_001387632.1:c.1007T>C
  • NM_001387633.1:c.1007T>C
  • NM_001387634.1:c.1007T>C
  • NM_001387635.1:c.560T>C
  • NM_001387636.1:c.1007T>C
  • NM_001387637.1:c.1007T>C
  • NM_001387638.1:c.1007T>C
  • NM_001387639.1:c.1007T>C
  • NM_001387640.1:c.1007T>C
  • NM_001387641.1:c.1046T>C
  • NM_001387642.1:c.1007T>C
  • NM_001387643.1:c.1139T>C
  • NM_001387644.1:c.1046T>C
  • NM_001387645.1:c.1007T>C
  • NM_001387646.1:c.1139T>C
  • NM_001387647.1:c.1007T>C
  • NM_001387648.1:c.1139T>C
  • NM_001387649.1:c.1139T>C
  • NM_001387650.1:c.1139T>C
  • NM_001387652.1:c.668T>C
  • NM_001387653.1:c.899T>C
  • NM_001387654.1:c.668T>C
  • NM_001387655.1:c.1007T>C
  • NM_001387656.1:c.1007T>C
  • NM_001387657.1:c.1007T>C
  • NM_001387658.1:c.1007T>C
  • NM_001387659.1:c.1007T>C
  • NM_001387660.1:c.1139T>C
  • NM_001387661.1:c.1139T>C
  • NM_001387662.1:c.1139T>C
  • NM_005607.5:c.1073T>C
  • NM_153831.4:c.1007T>C
  • NP_001186578.1:p.Ile336Thr
  • NP_001303271.1:p.Ile223Thr
  • NP_001339623.1:p.Ile336Thr
  • NP_001339624.1:p.Ile336Thr
  • NP_001339625.1:p.Ile223Thr
  • NP_001339626.1:p.Ile380Thr
  • NP_001339627.1:p.Ile349Thr
  • NP_001339628.1:p.Ile336Thr
  • NP_001339629.1:p.Ile336Thr
  • NP_001339630.1:p.Ile336Thr
  • NP_001339631.1:p.Ile336Thr
  • NP_001339632.1:p.Ile336Thr
  • NP_001339633.1:p.Ile336Thr
  • NP_001339634.1:p.Ile349Thr
  • NP_001339635.1:p.Ile336Thr
  • NP_001339636.1:p.Ile336Thr
  • NP_001339637.1:p.Ile336Thr
  • NP_001339638.1:p.Ile336Thr
  • NP_001339639.1:p.Ile336Thr
  • NP_001339640.1:p.Ile336Thr
  • NP_001339641.1:p.Ile336Thr
  • NP_001339642.1:p.Ile336Thr
  • NP_001339643.1:p.Ile336Thr
  • NP_001339644.1:p.Ile336Thr
  • NP_001339645.1:p.Ile300Thr
  • NP_001339646.1:p.Ile336Thr
  • NP_001339647.1:p.Ile336Thr
  • NP_001339648.1:p.Ile336Thr
  • NP_001339649.1:p.Ile336Thr
  • NP_001339650.1:p.Ile336Thr
  • NP_001339651.1:p.Ile336Thr
  • NP_001339652.1:p.Ile336Thr
  • NP_001339653.1:p.Ile336Thr
  • NP_001339654.1:p.Ile336Thr
  • NP_001339655.1:p.Ile300Thr
  • NP_001339656.1:p.Ile336Thr
  • NP_001339657.1:p.Ile300Thr
  • NP_001339658.1:p.Ile300Thr
  • NP_001339659.1:p.Ile223Thr
  • NP_001339660.1:p.Ile223Thr
  • NP_001339661.1:p.Ile223Thr
  • NP_001339662.1:p.Ile223Thr
  • NP_001339663.1:p.Ile223Thr
  • NP_001339664.1:p.Ile202Thr
  • NP_001339665.1:p.Ile235Thr
  • NP_001339666.1:p.Ile223Thr
  • NP_001339667.1:p.Ile223Thr
  • NP_001339668.1:p.Ile223Thr
  • NP_001339669.1:p.Ile223Thr
  • NP_001339670.1:p.Ile223Thr
  • NP_001339671.1:p.Ile202Thr
  • NP_001339672.1:p.Ile223Thr
  • NP_001339673.1:p.Ile187Thr
  • NP_001339674.1:p.Ile187Thr
  • NP_001339675.1:p.Ile166Thr
  • NP_001339677.1:p.Ile336Thr
  • NP_001374513.1:p.Ile223Thr
  • NP_001374514.1:p.Ile336Thr
  • NP_001374515.1:p.Ile336Thr
  • NP_001374516.1:p.Ile336Thr
  • NP_001374519.1:p.Ile187Thr
  • NP_001374520.1:p.Ile223Thr
  • NP_001374521.1:p.Ile22Thr
  • NP_001374532.1:p.Ile223Thr
  • NP_001374533.1:p.Ile22Thr
  • NP_001374534.1:p.Ile223Thr
  • NP_001374535.1:p.Ile223Thr
  • NP_001374536.1:p.Ile223Thr
  • NP_001374537.1:p.Ile223Thr
  • NP_001374538.1:p.Ile223Thr
  • NP_001374539.1:p.Ile162Thr
  • NP_001374540.1:p.Ile223Thr
  • NP_001374541.1:p.Ile223Thr
  • NP_001374542.1:p.Ile223Thr
  • NP_001374543.1:p.Ile336Thr
  • NP_001374544.1:p.Ile300Thr
  • NP_001374545.1:p.Ile22Thr
  • NP_001374546.1:p.Ile22Thr
  • NP_001374547.1:p.Ile223Thr
  • NP_001374548.1:p.Ile300Thr
  • NP_001374549.1:p.Ile223Thr
  • NP_001374550.1:p.Ile22Thr
  • NP_001374551.1:p.Ile336Thr
  • NP_001374552.1:p.Ile223Thr
  • NP_001374553.1:p.Ile300Thr
  • NP_001374554.1:p.Ile336Thr
  • NP_001374556.1:p.Ile336Thr
  • NP_001374557.1:p.Ile336Thr
  • NP_001374558.1:p.Ile22Thr
  • NP_001374559.1:p.Ile162Thr
  • NP_001374560.1:p.Ile300Thr
  • NP_001374561.1:p.Ile336Thr
  • NP_001374562.1:p.Ile336Thr
  • NP_001374563.1:p.Ile336Thr
  • NP_001374564.1:p.Ile187Thr
  • NP_001374565.1:p.Ile336Thr
  • NP_001374566.1:p.Ile336Thr
  • NP_001374567.1:p.Ile336Thr
  • NP_001374568.1:p.Ile336Thr
  • NP_001374569.1:p.Ile336Thr
  • NP_001374570.1:p.Ile349Thr
  • NP_001374571.1:p.Ile336Thr
  • NP_001374572.1:p.Ile380Thr
  • NP_001374573.1:p.Ile349Thr
  • NP_001374574.1:p.Ile336Thr
  • NP_001374575.1:p.Ile380Thr
  • NP_001374576.1:p.Ile336Thr
  • NP_001374577.1:p.Ile380Thr
  • NP_001374578.1:p.Ile380Thr
  • NP_001374579.1:p.Ile380Thr
  • NP_001374581.1:p.Ile223Thr
  • NP_001374582.1:p.Ile300Thr
  • NP_001374583.1:p.Ile223Thr
  • NP_001374584.1:p.Ile336Thr
  • NP_001374585.1:p.Ile336Thr
  • NP_001374586.1:p.Ile336Thr
  • NP_001374587.1:p.Ile336Thr
  • NP_001374588.1:p.Ile336Thr
  • NP_001374589.1:p.Ile380Thr
  • NP_001374590.1:p.Ile380Thr
  • NP_001374591.1:p.Ile380Thr
  • NP_005598.3:p.Ile358Thr
  • NP_722560.1:p.Ile336Thr
  • NC_000008.10:g.141810644A>G
  • NM_005607.4:c.1073T>C
  • NR_148036.2:n.1286T>C
  • NR_148037.2:n.1401T>C
  • NR_148038.2:n.1119T>C
  • NR_148039.2:n.1011T>C
  • NR_170671.1:n.1030T>C
  • NR_170672.1:n.1197T>C
  • NR_170673.1:n.1197T>C
Protein change:
I162T
Molecular consequence:
  • NM_001352747.2:c.-633T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001199649.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316342.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352694.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352695.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352696.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352697.2:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352698.2:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352699.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352700.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352701.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352702.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352703.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352704.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352705.2:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352706.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352707.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352708.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352709.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352710.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352711.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352712.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352713.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352714.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352715.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352716.2:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352717.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352718.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352719.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352720.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352721.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352722.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352723.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352724.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352725.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352726.2:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352727.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352728.2:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352729.2:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352730.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352731.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352732.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352733.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352734.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352735.2:c.605T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352736.2:c.704T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352737.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352738.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352739.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352740.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352741.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352742.2:c.605T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352743.2:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352744.2:c.560T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352745.2:c.560T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352746.2:c.497T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352748.2:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387584.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387585.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387586.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387587.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387590.1:c.560T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387591.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387592.1:c.65T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387603.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387604.1:c.65T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387605.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387606.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387607.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387608.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387609.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387610.1:c.485T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387611.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387612.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387613.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387614.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387615.1:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387616.1:c.65T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387617.1:c.65T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387618.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387619.1:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387620.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387621.1:c.65T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387622.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387623.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387624.1:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387625.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387627.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387628.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387629.1:c.65T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387630.1:c.485T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387631.1:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387632.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387633.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387634.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387635.1:c.560T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387636.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387637.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387638.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387639.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387640.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387641.1:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387642.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387643.1:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387644.1:c.1046T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387645.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387646.1:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387647.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387648.1:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387649.1:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387650.1:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387652.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387653.1:c.899T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387654.1:c.668T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387655.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387656.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387657.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387658.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387659.1:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387660.1:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387661.1:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387662.1:c.1139T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005607.5:c.1073T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153831.4:c.1007T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148036.2:n.1286T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148037.2:n.1401T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148038.2:n.1119T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148039.2:n.1011T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170671.1:n.1030T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170672.1:n.1197T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170673.1:n.1197T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003753534Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 7, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003753534.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1073T>C (p.I358T) alteration is located in exon 12 (coding exon 11) of the PTK2 gene. This alteration results from a T to C substitution at nucleotide position 1073, causing the isoleucine (I) at amino acid position 358 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024