rs9857878
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_015426.5(POC1A):c.*235G>T variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000041 in 244,026 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_015426.5 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POC1A | ENST00000296484 | c.*235G>T | 3_prime_UTR_variant | Exon 11 of 11 | 1 | NM_015426.5 | ENSP00000296484.2 | |||
POC1A | ENST00000394970 | c.*235G>T | 3_prime_UTR_variant | Exon 10 of 10 | 1 | ENSP00000378421.2 | ||||
POC1A | ENST00000474012 | c.*235G>T | 3_prime_UTR_variant | Exon 11 of 11 | 2 | ENSP00000418968.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome AF: 0.00000410 AC: 1AN: 244026Hom.: 0 Cov.: 0 AF XY: 0.00000777 AC XY: 1AN XY: 128782
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.