chr1-1020217-G-T
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_198576.4(AGRN):c.45G>T(p.Pro15Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.331 in 1,393,132 control chromosomes in the GnomAD database, including 77,454 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_198576.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AGRN | ENST00000379370.7 | c.45G>T | p.Pro15Pro | synonymous_variant | Exon 1 of 36 | 1 | NM_198576.4 | ENSP00000368678.2 | ||
AGRN | ENST00000620552 | c.-370G>T | 5_prime_UTR_variant | Exon 1 of 39 | 5 | ENSP00000484607.1 |
Frequencies
GnomAD3 genomes AF: 0.307 AC: 46469AN: 151260Hom.: 7503 Cov.: 32
GnomAD3 exomes AF: 0.343 AC: 17342AN: 50582Hom.: 3026 AF XY: 0.344 AC XY: 10482AN XY: 30440
GnomAD4 exome AF: 0.333 AC: 413987AN: 1241764Hom.: 69954 Cov.: 33 AF XY: 0.334 AC XY: 203698AN XY: 610058
GnomAD4 genome AF: 0.307 AC: 46464AN: 151368Hom.: 7500 Cov.: 32 AF XY: 0.309 AC XY: 22903AN XY: 74004
ClinVar
Submissions by phenotype
not specified Benign:3
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This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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Congenital myasthenic syndrome 8 Benign:2
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at