1-52414808-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_032864.4(PRPF38A):c.796C>A(p.His266Asn) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,614,074 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. H266R) has been classified as Uncertain significance.
Frequency
Consequence
NM_032864.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PRPF38A | ENST00000257181.10 | c.796C>A | p.His266Asn | missense_variant | Exon 8 of 10 | 1 | NM_032864.4 | ENSP00000257181.8 | ||
PRPF38A | ENST00000474048.1 | n.584C>A | non_coding_transcript_exon_variant | Exon 6 of 8 | 1 | |||||
TUT4 | ENST00000528457.5 | c.374-6348G>T | intron_variant | Intron 2 of 2 | 3 | ENSP00000432475.1 | ||||
TUT4 | ENST00000527941.5 | n.*68-5202G>T | intron_variant | Intron 3 of 4 | 5 | ENSP00000436810.1 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461890Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 727246
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152184Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74340
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.796C>A (p.H266N) alteration is located in exon 8 (coding exon 8) of the PRPF38A gene. This alteration results from a C to A substitution at nucleotide position 796, causing the histidine (H) at amino acid position 266 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at