NM_021029.6:c.3+121A>G
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_021029.6(RPL36A):c.3+121A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000253 in 842,330 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 63 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_021029.6 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPL36A | NM_021029.6 | c.3+121A>G | intron_variant | Intron 1 of 4 | ENST00000553110.8 | NP_066357.3 | ||
RPL36A-HNRNPH2 | NM_001199973.2 | c.3+121A>G | intron_variant | Intron 1 of 4 | NP_001186902.2 | |||
RPL36A-HNRNPH2 | NM_001199974.2 | c.3+121A>G | intron_variant | Intron 1 of 3 | NP_001186903.2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00105 AC: 118AN: 112314Hom.: 0 Cov.: 23 AF XY: 0.00125 AC XY: 43AN XY: 34476
GnomAD4 exome AF: 0.000130 AC: 95AN: 729962Hom.: 0 Cov.: 12 AF XY: 0.000105 AC XY: 20AN XY: 190680
GnomAD4 genome AF: 0.00105 AC: 118AN: 112368Hom.: 0 Cov.: 23 AF XY: 0.00124 AC XY: 43AN XY: 34540
ClinVar
Submissions by phenotype
GLA-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