17-7383041-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_003985.6(TNK1):c.115G>A(p.Asp39Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000096 in 1,614,018 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003985.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000112 AC: 17AN: 152216Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000923 AC: 23AN: 249248Hom.: 0 AF XY: 0.000118 AC XY: 16AN XY: 135240
GnomAD4 exome AF: 0.0000951 AC: 139AN: 1461684Hom.: 0 Cov.: 35 AF XY: 0.000100 AC XY: 73AN XY: 727124
GnomAD4 genome AF: 0.000105 AC: 16AN: 152334Hom.: 0 Cov.: 33 AF XY: 0.000107 AC XY: 8AN XY: 74488
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.115G>A (p.D39N) alteration is located in exon 2 (coding exon 1) of the TNK1 gene. This alteration results from a G to A substitution at nucleotide position 115, causing the aspartic acid (D) at amino acid position 39 to be replaced by an asparagine (N). 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