chr22-21000004-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030573.3(THAP7):c.806G>A(p.Arg269Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000509 in 1,612,542 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_030573.3 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: 0.0000723 AC: 11AN: 152244Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000111 AC: 27AN: 243630Hom.: 0 AF XY: 0.0000904 AC XY: 12AN XY: 132798
GnomAD4 exome AF: 0.0000486 AC: 71AN: 1460298Hom.: 0 Cov.: 31 AF XY: 0.0000427 AC XY: 31AN XY: 726478
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152244Hom.: 0 Cov.: 33 AF XY: 0.0000807 AC XY: 6AN XY: 74374
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.806G>A (p.R269Q) alteration is located in exon 4 (coding exon 4) of the THAP7 gene. This alteration results from a G to A substitution at nucleotide position 806, causing the arginine (R) at amino acid position 269 to be replaced by a glutamine (Q). 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