2-161231364-C-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001199135.3(TANK):c.914C>A(p.Thr305Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000452 in 1,614,162 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_001199135.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000243 AC: 37AN: 152166Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251450Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135898
GnomAD4 exome AF: 0.0000253 AC: 37AN: 1461878Hom.: 0 Cov.: 32 AF XY: 0.0000220 AC XY: 16AN XY: 727238
GnomAD4 genome AF: 0.000236 AC: 36AN: 152284Hom.: 0 Cov.: 33 AF XY: 0.000282 AC XY: 21AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.914C>A (p.T305K) alteration is located in exon 7 (coding exon 6) of the TANK gene. This alteration results from a C to A substitution at nucleotide position 914, causing the threonine (T) at amino acid position 305 to be replaced by a lysine (K). 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