chr10-101579690-G-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_001174084.2(POLL):c.1491C>A(p.Ser497Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000155 in 1,613,892 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 (★).
Frequency
Consequence
NM_001174084.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLL | NM_001174084.2 | c.1491C>A | p.Ser497Arg | missense_variant | 9/9 | ENST00000370162.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLL | ENST00000370162.8 | c.1491C>A | p.Ser497Arg | missense_variant | 9/9 | 1 | NM_001174084.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000953 AC: 145AN: 152118Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000247 AC: 62AN: 251096Hom.: 0 AF XY: 0.000177 AC XY: 24AN XY: 135772
GnomAD4 exome AF: 0.0000718 AC: 105AN: 1461654Hom.: 0 Cov.: 32 AF XY: 0.0000536 AC XY: 39AN XY: 727136
GnomAD4 genome ? AF: 0.000952 AC: 145AN: 152238Hom.: 0 Cov.: 32 AF XY: 0.000927 AC XY: 69AN XY: 74450
ClinVar
Submissions by phenotype
POLL-related disorder Benign:1
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Feb 10, 2022 | 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