7-141779153-C-T
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_016944.2(TAS2R4):c.665C>T(p.Thr222Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00112 in 1,614,162 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_016944.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00173 AC: 264AN: 152192Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000879 AC: 221AN: 251394Hom.: 0 AF XY: 0.000810 AC XY: 110AN XY: 135872
GnomAD4 exome AF: 0.00105 AC: 1542AN: 1461852Hom.: 2 Cov.: 33 AF XY: 0.00100 AC XY: 730AN XY: 727218
GnomAD4 genome AF: 0.00173 AC: 264AN: 152310Hom.: 1 Cov.: 32 AF XY: 0.00160 AC XY: 119AN XY: 74488
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at