17-7382947-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_ModerateBP6BP7BA1
The NM_003985.6(TNK1):c.21C>T(p.Ser7Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.379 in 1,613,730 control chromosomes in the GnomAD database, including 122,219 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_003985.6 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.319 AC: 48424AN: 152006Hom.: 9404 Cov.: 32
GnomAD3 exomes AF: 0.367 AC: 91357AN: 249148Hom.: 18118 AF XY: 0.365 AC XY: 49360AN XY: 135170
GnomAD4 exome AF: 0.386 AC: 563863AN: 1461606Hom.: 112814 Cov.: 52 AF XY: 0.382 AC XY: 277732AN XY: 727080
GnomAD4 genome AF: 0.318 AC: 48450AN: 152124Hom.: 9405 Cov.: 32 AF XY: 0.324 AC XY: 24086AN XY: 74364
ClinVar
Submissions by phenotype
TNK1-related disorder Benign:1
This variant is classified as 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