6-32162931-T-A
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_005155.7(PPT2):c.890T>A(p.Ile297Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000000684 in 1,461,642 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.
Frequency
Consequence
NM_005155.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PPT2 | NM_005155.7 | c.890T>A | p.Ile297Asn | missense_variant | Exon 9 of 9 | ENST00000324816.11 | NP_005146.4 | |
PPT2 | NM_138717.3 | c.908T>A | p.Ile303Asn | missense_variant | Exon 9 of 9 | NP_619731.2 | ||
PPT2 | NM_001204103.2 | c.890T>A | p.Ile297Asn | missense_variant | Exon 9 of 9 | NP_001191032.1 | ||
PPT2-EGFL8 | NR_037861.1 | n.1179+309T>A | intron_variant | Intron 8 of 15 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461642Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 727146
GnomAD4 genome Cov.: 33
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.