3-171066626-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_015028.4(TNIK):c.3809G>A(p.Arg1270Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000992 in 1,613,584 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015028.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151900Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000201 AC: 5AN: 248984Hom.: 0 AF XY: 0.0000296 AC XY: 4AN XY: 135048
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461684Hom.: 0 Cov.: 33 AF XY: 0.0000110 AC XY: 8AN XY: 727126
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151900Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 74180
ClinVar
Submissions by phenotype
TNIK-related disorder Uncertain:1
The TNIK c.3809G>A variant is predicted to result in the amino acid substitution p.Arg1270Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0083% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-170784415-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at