Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001297654.2(DDR1):c.586G>A(p.Ala196Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000411 in 1,460,550 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
DDR1 (HGNC:2730): (discoidin domain receptor tyrosine kinase 1) Receptor tyrosine kinases play a key role in the communication of cells with their microenvironment. These kinases are involved in the regulation of cell growth, differentiation and metabolism. The protein encoded by this gene belongs to a subfamily of tyrosine kinase receptors with homology to Dictyostelium discoideum protein discoidin I in their extracellular domain, and that are activated by various types of collagen. Expression of this protein is restricted to epithelial cells, particularly in the kidney, lung, gastrointestinal tract, and brain. In addition, it has been shown to be significantly overexpressed in several human tumors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
Gain of phosphorylation at A196 (P = 0.0623);Gain of phosphorylation at A196 (P = 0.0623);Gain of phosphorylation at A196 (P = 0.0623);Gain of phosphorylation at A196 (P = 0.0623);Gain of phosphorylation at A196 (P = 0.0623);Gain of phosphorylation at A196 (P = 0.0623);Gain of phosphorylation at A196 (P = 0.0623);Gain of phosphorylation at A196 (P = 0.0623);Gain of phosphorylation at A196 (P = 0.0623);.;.;Gain of phosphorylation at A196 (P = 0.0623);Gain of phosphorylation at A196 (P = 0.0623);Gain of phosphorylation at A196 (P = 0.0623);Gain of phosphorylation at A196 (P = 0.0623);