10-101579710-T-C
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBP6
The NM_001174084.2(POLL):āc.1471A>Gā(p.Ile491Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000196 in 1,613,750 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_001174084.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
POLL | NM_001174084.2 | c.1471A>G | p.Ile491Val | missense_variant | 9/9 | ENST00000370162.8 | NP_001167555.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POLL | ENST00000370162.8 | c.1471A>G | p.Ile491Val | missense_variant | 9/9 | 1 | NM_001174084.2 | ENSP00000359181 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00102 AC: 155AN: 152026Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000275 AC: 69AN: 251042Hom.: 1 AF XY: 0.000199 AC XY: 27AN XY: 135742
GnomAD4 exome AF: 0.000112 AC: 163AN: 1461606Hom.: 1 Cov.: 32 AF XY: 0.0000990 AC XY: 72AN XY: 727110
GnomAD4 genome AF: 0.00101 AC: 154AN: 152144Hom.: 1 Cov.: 32 AF XY: 0.00105 AC XY: 78AN XY: 74368
ClinVar
Submissions by phenotype
POLL-related disorder Benign:1
Likely benign, no assertion criteria provided | clinical testing | PreventionGenetics, part of Exact Sciences | Jul 30, 2023 | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at