rs1057518890
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_ModerateBP6_Moderate
The NM_145239.3(PRRT2):c.674A>C(p.Glu225Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000446 in 1,345,160 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. E225G) has been classified as Uncertain significance.
Frequency
Consequence
NM_145239.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PRRT2 | NM_145239.3 | c.674A>C | p.Glu225Ala | missense_variant | 2/4 | ENST00000358758.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PRRT2 | ENST00000358758.12 | c.674A>C | p.Glu225Ala | missense_variant | 2/4 | 1 | NM_145239.3 | P1 | |
MVP-DT | ENST00000569039.5 | n.246-3555T>G | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0000281 AC: 4AN: 142316Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000910 AC: 2AN: 219678Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 118598
GnomAD4 exome AF: 0.00000166 AC: 2AN: 1202844Hom.: 0 Cov.: 43 AF XY: 0.00 AC XY: 0AN XY: 594096
GnomAD4 genome ? AF: 0.0000281 AC: 4AN: 142316Hom.: 0 Cov.: 31 AF XY: 0.0000435 AC XY: 3AN XY: 68996
ClinVar
Submissions by phenotype
Episodic kinesigenic dyskinesia Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Oct 03, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at