rs587778771
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PM4_Supporting
The NM_145239.3(PRRT2):c.647_649delCCC(p.Pro216del) variant causes a disruptive inframe deletion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000738 in 1,355,906 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_145239.3 disruptive_inframe_deletion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRRT2 | ENST00000358758.12 | c.647_649delCCC | p.Pro216del | disruptive_inframe_deletion | Exon 2 of 4 | 1 | NM_145239.3 | ENSP00000351608.7 | ||
ENSG00000280893 | ENST00000609618.2 | n.647_649delCCC | non_coding_transcript_exon_variant | Exon 2 of 6 | 5 | ENSP00000476774.2 |
Frequencies
GnomAD3 genomes Cov.: 31
GnomAD4 exome AF: 7.38e-7 AC: 1AN: 1355906Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 672626
GnomAD4 genome Cov.: 31
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.