chr7-141973021-G-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_176817.5(TAS2R38):c.669C>A(p.His223Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000105 in 1,613,974 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_176817.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 19AN: 152094Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000171 AC: 43AN: 251296Hom.: 0 AF XY: 0.000199 AC XY: 27AN XY: 135822
GnomAD4 exome AF: 0.000103 AC: 150AN: 1461880Hom.: 1 Cov.: 63 AF XY: 0.0000921 AC XY: 67AN XY: 727242
GnomAD4 genome AF: 0.000125 AC: 19AN: 152094Hom.: 0 Cov.: 31 AF XY: 0.000148 AC XY: 11AN XY: 74286
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.669C>A (p.H223Q) alteration is located in exon 1 (coding exon 1) of the TAS2R38 gene. This alteration results from a C to A substitution at nucleotide position 669, causing the histidine (H) at amino acid position 223 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