rs2307111
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001099271.2(POC5):c.107A>T(p.His36Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000697 in 1,434,370 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign 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. H36R) has been classified as Benign.
Frequency
Consequence
NM_001099271.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POC5 | NM_001099271.2 | c.107A>T | p.His36Leu | missense_variant | 3/12 | ENST00000428202.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POC5 | ENST00000428202.7 | c.107A>T | p.His36Leu | missense_variant | 3/12 | 1 | NM_001099271.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 0AN: 152004Hom.: 0 Cov.: 32 FAILED QC
GnomAD3 exomes AF: 0.00000445 AC: 1AN: 224612Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 120902
GnomAD4 exome AF: 6.97e-7 AC: 1AN: 1434370Hom.: 0 Cov.: 33 AF XY: 0.00000140 AC XY: 1AN XY: 712396
GnomAD4 genome ? Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 152004Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74210
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at