chr10-111282335-T-G
Variant summary
The variant 10-111282335-T-G has been identified. The variant allele was found at a cumulative frequency of 0.715 (AC=108,759) in the gnomAD database across 152,040 control chromosomes, including 43,396 homozygotes. The grpmax filtering allele frequency (95% CI) is 0.91. In-silico predictor (BayesDel (noAF)) classifies this variant as likely benign. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
Scores
Clinical Significance
Conservation
Publications
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Classification according to ACGS-UK Somatic Oncogenicity v2025
Our verdict: Likely_benign. The variant received -4 points.
| Apply | Criterion Code & Title / Strength | Rationale / Clinical Context | |
|---|---|---|---|
| B1High frequency in general population | GnomAD effective popmax AF >1% — B1 stand-alone benign; GnomAD effective popmax AF = 0.91 — exceeds 1% threshold (B1 applied) |
Variant Effect in Transcripts
RefSeq Transcripts
Ensembl Transcripts
Frequencies
Allele frequencies (AF), counts (AC/AN), homozygotes and coverage
| Source / population | AF | AC | Hom | AN | Coverage |
|---|---|---|---|---|---|
Global population databases 4 sources | |||||
GnomAD3 genomes | AF: 0.716 | AC:108744 | Hom:43393 | AN:151922 | Cov:31 |
GnomAD4 genome | AF: 0.715 | AC:108759 | Hom:43396 | AN:152040 | Cov:31 |
TOPMed (Bravo) | AF: 0.697 | ||||
ALFA (dbGaP/dbSNP Allele Frequency Aggregator) | AF: 0.823 | AC:583692 | Hom:249561 | AN:708948 | |
Local & regional cohorts 10 sources | |||||
ABraOM SABE-WGS-1171 | AF: 0.772 | AC:1809 | Hom:713 | AN:2342 | |
ChinaMAP Phase 1 | AF: 0.922 | ||||
Denmark Genome | AF: 0.863 | AC:259 | AN:300 | ||
GenomeAsia100K | AF: 0.804 | AC:2797 | AN:3478 | ||
Korea4K (4,157 Koreans) | AF: 0.905 | AC:6542 | AN:7230 | ||
Qatari Genome | AF: 0.676 | AC:119 | AN:176 | ||
ToMMo 61KJPN (+60KJPN MNV) | AF: 0.909 | AC:111636 | Hom:50741 | AN:122826 | |
Turkish Variome | AF: 0.860 | AC:1330 | Hom:572 | AN:1546 | |
UK10K | AF: 0.869 | AC:6575 | AN:7562 | ||
WBBC (Westlake BioBank for Chinese) pilot | AF: 0.934 | AC:8366 | Hom:3900 | AN:8960 | |
ClinVar
Not reported inComputational Scores
| Algorithm | Calibrated pred. | Score | Prediction |
|---|---|---|---|
AlphaGenome AVI | Benign | 4.3 | |
BayesDel_noAF | Benign | -0.83 | |
CADD | Benign | 2.2 | |
DANN | Benign | 0.66 | |
GPN-Star LLR | N/A | 0.67 | |
GPN-Star score | N/A | -0.67 | |
PhyloP100 | Benign | -0.31 |
Splicing Scores
No splicing scores have been computed for this variant.
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.