7-141555458-C-G
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP6
The NM_018238.4(AGK):c.-9C>G variant causes a 5 prime UTR premature start codon gain change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_018238.4 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AGK | NM_018238.4 | c.-9C>G | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 16 | ENST00000649286.2 | NP_060708.1 | ||
AGK | NM_018238.4 | c.-9C>G | 5_prime_UTR_variant | Exon 2 of 16 | ENST00000649286.2 | NP_060708.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AGK | ENST00000649286 | c.-9C>G | 5_prime_UTR_premature_start_codon_gain_variant | Exon 2 of 16 | NM_018238.4 | ENSP00000497280.1 | ||||
AGK | ENST00000649286 | c.-9C>G | 5_prime_UTR_variant | Exon 2 of 16 | NM_018238.4 | ENSP00000497280.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 29
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
AGK-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.