NM_173176.3:c.201C>G
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_173176.3(PTK2B):c.201C>G(p.Ile67Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000886 in 1,613,916 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_173176.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000145 AC: 22AN: 152232Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000127 AC: 32AN: 251322Hom.: 0 AF XY: 0.0000957 AC XY: 13AN XY: 135814
GnomAD4 exome AF: 0.0000828 AC: 121AN: 1461684Hom.: 0 Cov.: 42 AF XY: 0.0000880 AC XY: 64AN XY: 727162
GnomAD4 genome AF: 0.000145 AC: 22AN: 152232Hom.: 0 Cov.: 34 AF XY: 0.000134 AC XY: 10AN XY: 74364
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.201C>G (p.I67M) alteration is located in exon 7 (coding exon 1) of the PTK2B gene. This alteration results from a C to G substitution at nucleotide position 201, causing the isoleucine (I) at amino acid position 67 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at