chr10-111282335-T-G

Variant summary

Our verdict is Likely benign.
-4 Likely Benign
-7
-6
-1
0
+5
+6
+9
+10
B
LB
VUS
LP
P
The variant received -4 classification points (ACGS-UK Somatic Oncogenicity v2025). B1_Strong

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

Genomes: 𝑓 0.72 ( 43396 hom., cov: 31)

Consequence

Unknown

Scores

3

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -0.306

Publications

104 publications found
Variant links:

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Classification according to ACGS-UK Somatic Oncogenicity v2025

Our verdict: Likely_benign. The variant received -4 points.

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

There are no transcript annotations for this variant.

Ensembl Transcripts

There are no transcript annotations for this variant.

Frequencies

Allele frequencies (AF), counts (AC/AN), homozygotes and coverage

Common (AF > 0.05 / Hom > 5)
Rare (AF ≤ 0.0001 / Hom ≤ 1)
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
Showing 14 sources

ClinVar

Not reported in ClinVar

Computational Scores

AlphaGenome AVI
Benign4.3
BayesDel_noAF
Benign-0.83
CADD
Benign2.2
DANN
Benign0.66
GPN-Star LLR
N/A0.67
GPN-Star score
N/A-0.67
PhyloP100
Benign-0.31
Showing 7 of 7 scores

Splicing Scores

No splicing scores have been computed for this variant.

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

MaveDB functional evidence

MaveDB is a public repository of laboratory assays that test the effect of thousands of variants at once — treat this as supporting research data and interpret it with great caution; it is not a clinical classification.

No MaveDB functional evidence found for this variant.

Publications

Other links and lift over

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