rs119475042
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 7P and 4B. PM1PM5PP2PP3_ModerateBS2
The ENST00000321030.9(PRPF31):c.646G>A(p.Ala216Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00000684 in 1,461,640 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. A216P) has been classified as Pathogenic.
Frequency
Consequence
ENST00000321030.9 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PRPF31 | NM_015629.4 | c.646G>A | p.Ala216Thr | missense_variant | 7/14 | ENST00000321030.9 | NP_056444.3 | |
PRPF31-AS1 | XR_007067340.1 | n.88-277C>T | intron_variant, non_coding_transcript_variant | |||||
PRPF31 | XM_006723137.5 | c.646G>A | p.Ala216Thr | missense_variant | 7/14 | XP_006723200.1 | ||
PRPF31 | XM_047438587.1 | c.646G>A | p.Ala216Thr | missense_variant | 7/10 | XP_047294543.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRPF31 | ENST00000321030.9 | c.646G>A | p.Ala216Thr | missense_variant | 7/14 | 1 | NM_015629.4 | ENSP00000324122 | P1 | |
PRPF31-AS1 | ENST00000452097.1 | n.1477C>T | non_coding_transcript_exon_variant | 1/4 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000398 AC: 1AN: 251258Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135808
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461640Hom.: 0 Cov.: 34 AF XY: 0.00000825 AC XY: 6AN XY: 727128
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Retinal dystrophy Pathogenic:1
Likely pathogenic, no assertion criteria provided | clinical testing | Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg | Jan 01, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at