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NM_001352702.2(PTK2):c.2896G>T (p.Asp966Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 21, 2024
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:
RCV004442888.1

Allele description [Variation Report for NM_001352702.2(PTK2):c.2896G>T (p.Asp966Tyr)]

NM_001352702.2(PTK2):c.2896G>T (p.Asp966Tyr)

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.2896G>T (p.Asp966Tyr)
HGVS:
  • NC_000008.11:g.140668370C>A
  • NG_029467.2:g.337944G>T
  • NM_001199649.2:c.2803G>T
  • NM_001316342.2:c.2473G>T
  • NM_001352694.2:c.2764G>T
  • NM_001352695.2:c.2803G>T
  • NM_001352696.2:c.2473G>T
  • NM_001352697.2:c.2956G>T
  • NM_001352698.2:c.2935G>T
  • NM_001352699.2:c.2896G>T
  • NM_001352700.2:c.2896G>T
  • NM_001352701.2:c.2896G>T
  • NM_001352702.2:c.2896G>TMANE SELECT
  • NM_001352703.2:c.2896G>T
  • NM_001352704.2:c.2875G>T
  • NM_001352705.2:c.2851G>T
  • NM_001352706.2:c.2812G>T
  • NM_001352707.2:c.2812G>T
  • NM_001352708.2:c.2812G>T
  • NM_001352709.2:c.2812G>T
  • NM_001352710.2:c.2812G>T
  • NM_001352711.2:c.2809G>T
  • NM_001352712.2:c.2887G>T
  • NM_001352713.2:c.2794G>T
  • NM_001352714.2:c.2794G>T
  • NM_001352715.2:c.2791G>T
  • NM_001352716.2:c.2788G>T
  • NM_001352717.2:c.2782G>T
  • NM_001352718.2:c.2773G>T
  • NM_001352719.2:c.2773G>T
  • NM_001352720.2:c.2773G>T
  • NM_001352721.2:c.2749G>T
  • NM_001352722.2:c.2749G>T
  • NM_001352723.2:c.2749G>T
  • NM_001352724.2:c.2812G>T
  • NM_001352725.2:c.2710G>T
  • NM_001352726.2:c.2704G>T
  • NM_001352727.2:c.2749G>T
  • NM_001352728.2:c.2656G>T
  • NM_001352729.2:c.2641G>T
  • NM_001352730.2:c.2557G>T
  • NM_001352731.2:c.2551G>T
  • NM_001352732.2:c.2548G>T
  • NM_001352733.2:c.2536G>T
  • NM_001352734.2:c.2494G>T
  • NM_001352735.2:c.2494G>T
  • NM_001352736.2:c.2488G>T
  • NM_001352737.2:c.2527G>T
  • NM_001352738.2:c.2467G>T
  • NM_001352739.2:c.2455G>T
  • NM_001352740.2:c.2452G>T
  • NM_001352741.2:c.2434G>T
  • NM_001352742.2:c.2410G>T
  • NM_001352743.2:c.2410G>T
  • NM_001352744.2:c.2365G>T
  • NM_001352745.2:c.2347G>T
  • NM_001352746.2:c.2302G>T
  • NM_001352747.2:c.1351G>T
  • NM_001352749.2:c.703G>T
  • NM_001352750.2:c.694G>T
  • NM_001352751.2:c.640G>T
  • NM_001352752.2:c.631G>T
  • NM_001387584.1:c.2425G>T
  • NM_001387585.1:c.2701G>T
  • NM_001387586.1:c.2764G>T
  • NM_001387587.1:c.2764G>T
  • NM_001387590.1:c.2317G>T
  • NM_001387591.1:c.2362G>T
  • NM_001387592.1:c.1822G>T
  • NM_001387603.1:c.2371G>T
  • NM_001387604.1:c.1831G>T
  • NM_001387605.1:c.2425G>T
  • NM_001387606.1:c.2455G>T
  • NM_001387607.1:c.2464G>T
  • NM_001387608.1:c.2425G>T
  • NM_001387609.1:c.2434G>T
  • NM_001387610.1:c.2242G>T
  • NM_001387611.1:c.2443G>T
  • NM_001387612.1:c.2425G>T
  • NM_001387613.1:c.2434G>T
  • NM_001387614.1:c.2701G>T
  • NM_001387615.1:c.2704G>T
  • NM_001387616.1:c.1822G>T
  • NM_001387617.1:c.1822G>T
  • NM_001387618.1:c.2425G>T
  • NM_001387619.1:c.2656G>T
  • NM_001387620.1:c.2473G>T
  • NM_001387621.1:c.1822G>T
  • NM_001387622.1:c.2782G>T
  • NM_001387623.1:c.2425G>T
  • NM_001387624.1:c.2788G>T
  • NM_001387625.1:c.2710G>T
  • NM_001387627.1:c.2719G>T
  • NM_001387628.1:c.2764G>T
  • NM_001387629.1:c.1849G>T
  • NM_001387630.1:c.2242G>T
  • NM_001387631.1:c.2788G>T
  • NM_001387632.1:c.2701G>T
  • NM_001387633.1:c.2731G>T
  • NM_001387634.1:c.2791G>T
  • NM_001387635.1:c.2317G>T
  • NM_001387636.1:c.2764G>T
  • NM_001387637.1:c.2764G>T
  • NM_001387638.1:c.2773G>T
  • NM_001387639.1:c.2812G>T
  • NM_001387640.1:c.2833G>T
  • NM_001387641.1:c.2803G>T
  • NM_001387642.1:c.2764G>T
  • NM_001387643.1:c.2896G>T
  • NM_001387644.1:c.2914G>T
  • NM_001387645.1:c.2764G>T
  • NM_001387646.1:c.2896G>T
  • NM_001387647.1:c.2764G>T
  • NM_001387648.1:c.2896G>T
  • NM_001387649.1:c.2944G>T
  • NM_001387650.1:c.2896G>T
  • NM_001387652.1:c.2425G>T
  • NM_001387653.1:c.2656G>T
  • NM_001387654.1:c.2425G>T
  • NM_001387655.1:c.2764G>T
  • NM_001387656.1:c.2710G>T
  • NM_001387657.1:c.2764G>T
  • NM_001387658.1:c.2764G>T
  • NM_001387659.1:c.2773G>T
  • NM_001387660.1:c.2896G>T
  • NM_001387661.1:c.2896G>T
  • NM_001387662.1:c.2905G>T
  • NM_005607.5:c.2830G>T
  • NM_153831.4:c.2764G>T
  • NP_001186578.1:p.Asp935Tyr
  • NP_001303271.1:p.Asp825Tyr
  • NP_001339623.1:p.Asp922Tyr
  • NP_001339624.1:p.Asp935Tyr
  • NP_001339625.1:p.Asp825Tyr
  • NP_001339626.1:p.Asp986Tyr
  • NP_001339627.1:p.Asp979Tyr
  • NP_001339628.1:p.Asp966Tyr
  • NP_001339629.1:p.Asp966Tyr
  • NP_001339630.1:p.Asp966Tyr
  • NP_001339631.1:p.Asp966Tyr
  • NP_001339632.1:p.Asp966Tyr
  • NP_001339633.1:p.Asp959Tyr
  • NP_001339634.1:p.Asp951Tyr
  • NP_001339635.1:p.Asp938Tyr
  • NP_001339636.1:p.Asp938Tyr
  • NP_001339637.1:p.Asp938Tyr
  • NP_001339638.1:p.Asp938Tyr
  • NP_001339639.1:p.Asp938Tyr
  • NP_001339640.1:p.Asp937Tyr
  • NP_001339641.1:p.Asp963Tyr
  • NP_001339642.1:p.Asp932Tyr
  • NP_001339643.1:p.Asp932Tyr
  • NP_001339644.1:p.Asp931Tyr
  • NP_001339645.1:p.Asp930Tyr
  • NP_001339646.1:p.Asp928Tyr
  • NP_001339647.1:p.Asp925Tyr
  • NP_001339648.1:p.Asp925Tyr
  • NP_001339649.1:p.Asp925Tyr
  • NP_001339650.1:p.Asp917Tyr
  • NP_001339651.1:p.Asp917Tyr
  • NP_001339652.1:p.Asp917Tyr
  • NP_001339653.1:p.Asp938Tyr
  • NP_001339654.1:p.Asp904Tyr
  • NP_001339655.1:p.Asp902Tyr
  • NP_001339656.1:p.Asp917Tyr
  • NP_001339657.1:p.Asp886Tyr
  • NP_001339658.1:p.Asp881Tyr
  • NP_001339659.1:p.Asp853Tyr
  • NP_001339660.1:p.Asp851Tyr
  • NP_001339661.1:p.Asp850Tyr
  • NP_001339662.1:p.Asp846Tyr
  • NP_001339663.1:p.Asp832Tyr
  • NP_001339664.1:p.Asp832Tyr
  • NP_001339665.1:p.Asp830Tyr
  • NP_001339666.1:p.Asp843Tyr
  • NP_001339667.1:p.Asp823Tyr
  • NP_001339668.1:p.Asp819Tyr
  • NP_001339669.1:p.Asp818Tyr
  • NP_001339670.1:p.Asp812Tyr
  • NP_001339671.1:p.Asp804Tyr
  • NP_001339672.1:p.Asp804Tyr
  • NP_001339673.1:p.Asp789Tyr
  • NP_001339674.1:p.Asp783Tyr
  • NP_001339675.1:p.Asp768Tyr
  • NP_001339676.1:p.Asp451Tyr
  • NP_001339678.1:p.Asp235Tyr
  • NP_001339679.1:p.Asp232Tyr
  • NP_001339680.1:p.Asp214Tyr
  • NP_001339681.1:p.Asp211Tyr
  • NP_001374513.1:p.Asp809Tyr
  • NP_001374514.1:p.Asp901Tyr
  • NP_001374515.1:p.Asp922Tyr
  • NP_001374516.1:p.Asp922Tyr
  • NP_001374519.1:p.Asp773Tyr
  • NP_001374520.1:p.Asp788Tyr
  • NP_001374521.1:p.Asp608Tyr
  • NP_001374532.1:p.Asp791Tyr
  • NP_001374533.1:p.Asp611Tyr
  • NP_001374534.1:p.Asp809Tyr
  • NP_001374535.1:p.Asp819Tyr
  • NP_001374536.1:p.Asp822Tyr
  • NP_001374537.1:p.Asp809Tyr
  • NP_001374538.1:p.Asp812Tyr
  • NP_001374539.1:p.Asp748Tyr
  • NP_001374540.1:p.Asp815Tyr
  • NP_001374541.1:p.Asp809Tyr
  • NP_001374542.1:p.Asp812Tyr
  • NP_001374543.1:p.Asp901Tyr
  • NP_001374544.1:p.Asp902Tyr
  • NP_001374545.1:p.Asp608Tyr
  • NP_001374546.1:p.Asp608Tyr
  • NP_001374547.1:p.Asp809Tyr
  • NP_001374548.1:p.Asp886Tyr
  • NP_001374549.1:p.Asp825Tyr
  • NP_001374550.1:p.Asp608Tyr
  • NP_001374551.1:p.Asp928Tyr
  • NP_001374552.1:p.Asp809Tyr
  • NP_001374553.1:p.Asp930Tyr
  • NP_001374554.1:p.Asp904Tyr
  • NP_001374556.1:p.Asp907Tyr
  • NP_001374557.1:p.Asp922Tyr
  • NP_001374558.1:p.Asp617Tyr
  • NP_001374559.1:p.Asp748Tyr
  • NP_001374560.1:p.Asp930Tyr
  • NP_001374561.1:p.Asp901Tyr
  • NP_001374562.1:p.Asp911Tyr
  • NP_001374563.1:p.Asp931Tyr
  • NP_001374564.1:p.Asp773Tyr
  • NP_001374565.1:p.Asp922Tyr
  • NP_001374566.1:p.Asp922Tyr
  • NP_001374567.1:p.Asp925Tyr
  • NP_001374568.1:p.Asp938Tyr
  • NP_001374569.1:p.Asp945Tyr
  • NP_001374570.1:p.Asp935Tyr
  • NP_001374571.1:p.Asp922Tyr
  • NP_001374572.1:p.Asp966Tyr
  • NP_001374573.1:p.Asp972Tyr
  • NP_001374574.1:p.Asp922Tyr
  • NP_001374575.1:p.Asp966Tyr
  • NP_001374576.1:p.Asp922Tyr
  • NP_001374577.1:p.Asp966Tyr
  • NP_001374578.1:p.Asp982Tyr
  • NP_001374579.1:p.Asp966Tyr
  • NP_001374581.1:p.Asp809Tyr
  • NP_001374582.1:p.Asp886Tyr
  • NP_001374583.1:p.Asp809Tyr
  • NP_001374584.1:p.Asp922Tyr
  • NP_001374585.1:p.Asp904Tyr
  • NP_001374586.1:p.Asp922Tyr
  • NP_001374587.1:p.Asp922Tyr
  • NP_001374588.1:p.Asp925Tyr
  • NP_001374589.1:p.Asp966Tyr
  • NP_001374590.1:p.Asp966Tyr
  • NP_001374591.1:p.Asp969Tyr
  • NP_005598.3:p.Asp944Tyr
  • NP_722560.1:p.Asp922Tyr
  • NC_000008.10:g.141678469C>A
  • NM_005607.4:c.2830G>T
  • NR_148036.2:n.3063G>T
  • NR_148037.2:n.3094G>T
  • NR_148038.2:n.2812G>T
  • NR_148039.2:n.2704G>T
  • NR_170671.1:n.2675G>T
  • NR_170672.1:n.2842G>T
  • NR_170673.1:n.3052G>T
Protein change:
D211Y
Molecular consequence:
  • NM_001199649.2:c.2803G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001316342.2:c.2473G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352694.2:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352695.2:c.2803G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352696.2:c.2473G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352697.2:c.2956G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352698.2:c.2935G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352699.2:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352700.2:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352701.2:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352702.2:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352703.2:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352704.2:c.2875G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352705.2:c.2851G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352706.2:c.2812G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352707.2:c.2812G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352708.2:c.2812G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352709.2:c.2812G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352710.2:c.2812G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352711.2:c.2809G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352712.2:c.2887G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352713.2:c.2794G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352714.2:c.2794G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352715.2:c.2791G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352716.2:c.2788G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352717.2:c.2782G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352718.2:c.2773G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352719.2:c.2773G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352720.2:c.2773G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352721.2:c.2749G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352722.2:c.2749G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352723.2:c.2749G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352724.2:c.2812G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352725.2:c.2710G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352726.2:c.2704G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352727.2:c.2749G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352728.2:c.2656G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352729.2:c.2641G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352730.2:c.2557G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352731.2:c.2551G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352732.2:c.2548G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352733.2:c.2536G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352734.2:c.2494G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352735.2:c.2494G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352736.2:c.2488G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352737.2:c.2527G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352738.2:c.2467G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352739.2:c.2455G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352740.2:c.2452G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352741.2:c.2434G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352742.2:c.2410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352743.2:c.2410G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352744.2:c.2365G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352745.2:c.2347G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352746.2:c.2302G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352747.2:c.1351G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352749.2:c.703G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352750.2:c.694G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352751.2:c.640G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352752.2:c.631G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387584.1:c.2425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387585.1:c.2701G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387586.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387587.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387590.1:c.2317G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387591.1:c.2362G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387592.1:c.1822G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387603.1:c.2371G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387604.1:c.1831G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387605.1:c.2425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387606.1:c.2455G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387607.1:c.2464G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387608.1:c.2425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387609.1:c.2434G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387610.1:c.2242G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387611.1:c.2443G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387612.1:c.2425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387613.1:c.2434G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387614.1:c.2701G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387615.1:c.2704G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387616.1:c.1822G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387617.1:c.1822G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387618.1:c.2425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387619.1:c.2656G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387620.1:c.2473G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387621.1:c.1822G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387622.1:c.2782G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387623.1:c.2425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387624.1:c.2788G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387625.1:c.2710G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387627.1:c.2719G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387628.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387629.1:c.1849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387630.1:c.2242G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387631.1:c.2788G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387632.1:c.2701G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387633.1:c.2731G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387634.1:c.2791G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387635.1:c.2317G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387636.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387637.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387638.1:c.2773G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387639.1:c.2812G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387640.1:c.2833G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387641.1:c.2803G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387642.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387643.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387644.1:c.2914G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387645.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387646.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387647.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387648.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387649.1:c.2944G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387650.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387652.1:c.2425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387653.1:c.2656G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387654.1:c.2425G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387655.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387656.1:c.2710G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387657.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387658.1:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387659.1:c.2773G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387660.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387661.1:c.2896G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001387662.1:c.2905G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005607.5:c.2830G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153831.4:c.2764G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148036.2:n.3063G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148037.2:n.3094G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148038.2:n.2812G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148039.2:n.2704G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170671.1:n.2675G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170672.1:n.2842G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170673.1:n.3052G>T - 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
SCV004934807Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 21, 2024) 		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, SCV004934807.1

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

Description

The c.2830G>T (p.D944Y) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a G to T substitution at nucleotide position 2830, causing the aspartic acid (D) at amino acid position 944 to be replaced by a tyrosine (Y). 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: May 7, 2024