NM_000978.4:c.366A>G
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_000978.4(RPL23):c.366A>G(p.Ala122Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000554 in 1,606,604 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Synonymous variant affecting the same amino acid position (i.e. A122A) has been classified as Likely benign.
Frequency
Consequence
NM_000978.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPL23 | NM_000978.4 | c.366A>G | p.Ala122Ala | synonymous_variant | Exon 5 of 5 | ENST00000479035.7 | NP_000969.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000283 AC: 43AN: 151930Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000810 AC: 20AN: 246870Hom.: 1 AF XY: 0.0000597 AC XY: 8AN XY: 133958
GnomAD4 exome AF: 0.0000316 AC: 46AN: 1454556Hom.: 1 Cov.: 30 AF XY: 0.0000332 AC XY: 24AN XY: 723394
GnomAD4 genome AF: 0.000283 AC: 43AN: 152048Hom.: 0 Cov.: 32 AF XY: 0.000283 AC XY: 21AN XY: 74310
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at