rs569729547
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PM5PP3_Moderate
The NM_001387263.1(PATL2):āc.839G>Cā(p.Arg280Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000657 in 152,162 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. R280Q) has been classified as Pathogenic.
Frequency
Consequence
NM_001387263.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PATL2 | NM_001387263.1 | c.839G>C | p.Arg280Pro | missense_variant | 11/18 | ENST00000682850.1 | NP_001374192.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PATL2 | ENST00000682850.1 | c.839G>C | p.Arg280Pro | missense_variant | 11/18 | NM_001387263.1 | ENSP00000508024 | A2 | ||
PATL2 | ENST00000434130.6 | c.839G>C | p.Arg280Pro | missense_variant | 9/16 | 5 | ENSP00000416673 | A2 | ||
PATL2 | ENST00000560780.1 | c.272G>C | p.Arg91Pro | missense_variant | 8/15 | 2 | ENSP00000453695 | P2 | ||
PATL2 | ENST00000558481.5 | c.*268G>C | 3_prime_UTR_variant, NMD_transcript_variant | 7/7 | 5 | ENSP00000454201 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 31
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152162Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74326
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at