17-7383067-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6BP7
The NM_003985.6(TNK1):c.141C>T(p.Asp47Asp) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00027 in 1,614,004 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_003985.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000223 AC: 34AN: 152214Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000249 AC: 62AN: 249180Hom.: 0 AF XY: 0.000214 AC XY: 29AN XY: 135204
GnomAD4 exome AF: 0.000274 AC: 401AN: 1461672Hom.: 1 Cov.: 35 AF XY: 0.000275 AC XY: 200AN XY: 727126
GnomAD4 genome AF: 0.000223 AC: 34AN: 152332Hom.: 0 Cov.: 33 AF XY: 0.000148 AC XY: 11AN XY: 74492
ClinVar
Submissions by phenotype
TNK1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at