NM_021942.6:c.1978G>A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_021942.6(TRAPPC11):c.1978G>A(p.Val660Ile) variant causes a missense change. The variant allele was found at a frequency of 0.00000783 in 1,404,720 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V660L) has been classified as Benign.
Frequency
Consequence
NM_021942.6 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 Cov.: 32
GnomAD3 exomes AF: 0.00000815 AC: 2AN: 245350Hom.: 0 AF XY: 0.00000754 AC XY: 1AN XY: 132672
GnomAD4 exome AF: 0.00000783 AC: 11AN: 1404720Hom.: 0 Cov.: 30 AF XY: 0.0000115 AC XY: 8AN XY: 696856
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at