1:162740180-162740180 C > T

Classification

Category 4 curation
CMH MAF 26 / 13144 samples (0.198%)
26 het., 0 hom. (100%)
26 / 26288 total alleles (0.0989%)

gene: DDR2 synonym(s): MIG20a, NTRKR3, TKT, TYRO10, DDR2, ENSG00000162733

OMIM
OMIM:191311: DDR2 (Autosomal recessive inheritance)
OMIM:271665: Spondylometaepiphyseal dysplasia, short limb-hand type
OMIM:618175: Warburg-Cinotti syndrome

NM_006182.2 [CDS]
hgvs_c: NM_006182.2:c.1382C>T
reference AA: S
variant AA: L
reference codon: tCa
variant codon: tTa
cDNA pos: 1767
CDS pos: 1382
translation impact: non_synonymous
protein sequence: NP_006173.2
AA pos: 461
hgvs_p: NP_006173.2:p.Ser461Leu
blosum: -2
SIFT: tolerated (0.24)
PolyPhen2: benign (0.002)

rs140710321
GMAF = 0.001797
TOPMED_MAF = 0.00262805810397553

286557
clinvar_significance = Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.000000,0.008625,0.002922

ExAC African, (82 / 10406), 0.788%
COSMIC Mutation ID = COSV63371237
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD African, (208 / 24966), 0.833% curated_classification = 4