NM_000819.5:c.1261G>A
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000819.5(GART):c.1261G>A(p.Val421Ile) variant causes a missense change. The variant allele was found at a frequency of 0.785 in 1,614,086 control chromosomes in the GnomAD database, including 500,004 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000819.5 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.822 AC: 125072AN: 152138Hom.: 51754 Cov.: 33 show subpopulations
GnomAD2 exomes AF: 0.812 AC: 204156AN: 251440 AF XY: 0.803 show subpopulations
GnomAD4 exome AF: 0.781 AC: 1142198AN: 1461828Hom.: 448196 Cov.: 63 AF XY: 0.779 AC XY: 566721AN XY: 727216 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.822 AC: 125185AN: 152258Hom.: 51808 Cov.: 33 AF XY: 0.827 AC XY: 61586AN XY: 74458 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at