17-38850189-T-C
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_000978.4(RPL23):āc.366A>Gā(p.Ala122=) 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 (ā ). 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
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RPL23 | NM_000978.4 | c.366A>G | p.Ala122= | synonymous_variant | 5/5 | ENST00000479035.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPL23 | ENST00000479035.7 | c.366A>G | p.Ala122= | synonymous_variant | 5/5 | 1 | NM_000978.4 | P1 |
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
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Feb 25, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at