rs755205199
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_198576.4(AGRN):āc.4073C>Gā(p.Pro1358Arg) variant causes a missense change. The variant allele was found at a frequency of 0.00000543 in 1,473,532 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. P1358L) has been classified as Likely benign.
Frequency
Consequence
NM_198576.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AGRN | NM_198576.4 | c.4073C>G | p.Pro1358Arg | missense_variant | 23/36 | ENST00000379370.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AGRN | ENST00000379370.7 | c.4073C>G | p.Pro1358Arg | missense_variant | 23/36 | 1 | NM_198576.4 | P1 | |
AGRN | ENST00000651234.1 | c.3758C>G | p.Pro1253Arg | missense_variant | 22/38 | ||||
AGRN | ENST00000652369.1 | c.3758C>G | p.Pro1253Arg | missense_variant | 22/35 | ||||
AGRN | ENST00000620552.4 | c.3659C>G | p.Pro1220Arg | missense_variant | 23/39 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000131 AC: 2AN: 152130Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000454 AC: 6AN: 1321402Hom.: 0 Cov.: 35 AF XY: 0.00000778 AC XY: 5AN XY: 642536
GnomAD4 genome ? AF: 0.0000131 AC: 2AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74322
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at