NM_018006.5:c.-36C>G
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 2P and 12B. PM2BP4_StrongBP6_Very_Strong
The NM_018006.5(TRMU):c.-36C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000838 in 1,540,116 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 Likely benign (★★).
Frequency
Consequence
NM_018006.5 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000394 AC: 60AN: 152168Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000125 AC: 17AN: 135940Hom.: 0 AF XY: 0.0000944 AC XY: 7AN XY: 74122
GnomAD4 exome AF: 0.0000497 AC: 69AN: 1387832Hom.: 0 Cov.: 30 AF XY: 0.0000394 AC XY: 27AN XY: 685110
GnomAD4 genome AF: 0.000394 AC: 60AN: 152284Hom.: 0 Cov.: 33 AF XY: 0.000322 AC XY: 24AN XY: 74462
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at