1-1051538-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_198576.4(AGRN):c.5456C>A(p.Thr1819Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000707 in 1,414,936 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. T1819I) has been classified as Uncertain significance.
Frequency
Consequence
NM_198576.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AGRN | NM_198576.4 | c.5456C>A | p.Thr1819Asn | missense_variant | 32/36 | ENST00000379370.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AGRN | ENST00000379370.7 | c.5456C>A | p.Thr1819Asn | missense_variant | 32/36 | 1 | NM_198576.4 | P1 | |
AGRN | ENST00000651234.1 | c.5153C>A | p.Thr1718Asn | missense_variant | 32/38 | ||||
AGRN | ENST00000652369.1 | c.5141C>A | p.Thr1714Asn | missense_variant | 31/35 | ||||
AGRN | ENST00000620552.4 | c.5054C>A | p.Thr1685Asn | missense_variant | 33/39 | 5 |
Frequencies
GnomAD3 genomes Cov.: 34
GnomAD3 exomes AF: 0.00000544 AC: 1AN: 183752Hom.: 0 AF XY: 0.00000993 AC XY: 1AN XY: 100738
GnomAD4 exome AF: 7.07e-7 AC: 1AN: 1414936Hom.: 0 Cov.: 85 AF XY: 0.00000143 AC XY: 1AN XY: 699118
GnomAD4 genome Cov.: 34
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at