1-1046551-A-T
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_198576.4(AGRN):c.3066A>T(p.Ser1022Ser) variant causes a synonymous 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. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. S1022S) has been classified as Benign.
Frequency
Consequence
NM_198576.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AGRN | ENST00000379370.7 | c.3066A>T | p.Ser1022Ser | synonymous_variant | 18/36 | 1 | NM_198576.4 | ENSP00000368678.2 | ||
AGRN | ENST00000651234.1 | c.2751A>T | p.Ser917Ser | synonymous_variant | 17/38 | ENSP00000499046.1 | ||||
AGRN | ENST00000652369.1 | c.2751A>T | p.Ser917Ser | synonymous_variant | 17/35 | ENSP00000498543.1 | ||||
AGRN | ENST00000620552.4 | c.2652A>T | p.Ser884Ser | synonymous_variant | 18/39 | 5 | ENSP00000484607.1 |
Frequencies
GnomAD3 genomes Cov.: 30
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1458690Hom.: 0 Cov.: 79 AF XY: 0.00 AC XY: 0AN XY: 725676
GnomAD4 genome Cov.: 30
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at