Home / CHEK2 c.1312G>T / gnomAD Canada
gnomAD Canada v1.0 · HostSeq
NM_007194.4:c.1312G>T
NP_009125.1:p.(Asp438Tyr)  ·  CHEK2
GRCh38
chr22:28,695,190 C>A
GRCh37
chr22:29091178 C>A
rsID
rs200050883
Type
SNV · missense variant
Allele type
snv · 1 alt
Cohort
HostSeq (10,487 genomes)
Flags
segdup
Allele frequency
0.0597%
11 / 18,422 alleles
⚠ segdup PASS
⚠ Segmental duplication region — this variant falls within a segdup region. Allele frequencies may be less reliable due to multi-mapping sequencing reads. Interpret with caution.
Allele count
11
adjusted · raw: 11
Allele number
18,422
adjusted · raw: 18,422
Allele frequency
5.97e-04
0.0597% MAF
Homozygotes
0
alt hom carriers
grpmax FAF95
3.38e-04
European (non-Finnish) · AC=8 AN=11,742
FAF95 max
3.38e-04
European (non-Finnish)
FAF99 max
2.47e-04
European (non-Finnish)
Cohort size
10,487
whole genomes
Raw vs adjusted allele counts
ACANAFHom
Adjusted
PASS genotypes only
 1118,422 5.97e-04 0
Raw
all genotypes
 11 18,422 5.97e-04 —
Allele frequency by ancestry
GRCh38 · HostSeq genomes · Canada
Population AC AN AF Hom
African/African American
afr
 0 1,020 — 0
Latino/Admixed American
amr
 0 838 — 0
Ashkenazi Jewish
asj
 0 832 — 0
East Asian
eas
 0 1,338 — 0
European (Finnish)
fin
 0 8 — 0
Middle Eastern
mid
 1 144
0.6944%
 0
European (non-Finnish)grpmax
nfe
 8 11,742
0.0681%
 0
Remaining individuals
oth
 2 1,138
0.1757%
 0
South Asian
sas
 0 1,362 — 0
Total
 11 18,422
0.0597%
 0
Population codes are displayed as sourced from gnomAD Canada v1.0 without relabelling. Bar widths scaled relative to the grpmax population (European (non-Finnish)). Grpmax FAF95 = 3.38e-04.
Filtering allele frequency (FAF)
PopulationFAF 95%FAF 99%
Overall
 3.34e-04 2.59e-04
European (non-Finnish)
nfe
 3.38e-04 2.47e-04
Sex-stratified allele counts are based on inferred chromosomal sex (XX / XY) from coverage of sex chromosomes in the HostSeq cohort.
XX genotypes
7 / 10,596  ·  0.0661%
PopulationACANAFHom
African/African American
afr
 0 552 — 0
Latino/Admixed American
amr
 0 456 — 0
Ashkenazi Jewish
asj
 0 420 — 0
East Asian
eas
 0 746 — 0
European (Finnish)
fin
 0 8 — 0
Middle Eastern
mid
 0 68 — 0
European (non-Finnish)
nfe
 7 7,110 0.098% 0
Remaining individuals
oth
 0 610 — 0
South Asian
sas
 0 626 — 0
XY genotypes
4 / 7,826  ·  0.0511%
PopulationACANAFHom
African/African American
afr
 0 468 — 0
Latino/Admixed American
amr
 0 382 — 0
Ashkenazi Jewish
asj
 0 412 — 0
East Asian
eas
 0 592 — 0
European (Finnish)
fin
 0 — — 0
Middle Eastern
mid
 1 76 1.316% 0
European (non-Finnish)
nfe
 1 4,632 0.022% 0
Remaining individuals
oth
 2 528 0.379% 0
South Asian
sas
 0 736 — 0
Variant quality scores
MQ
Mapping quality
106.1644
FS
Fisher strand bias · lower = better
0.0
MQRankSum
MQ rank sum test
-0.062
SOR
Strand odds ratio
0.6565
ReadPosRankSum
Read position rank sum
-0.264
AS_pab_max
Max posterior allele balance
1.0
RF
Random forest score
0.7656
InbreedingCoeff
Inbreeding coefficient
-0.0006
Region flags
LCR (low complexity region) segdup (segmental duplication) monoallelic
segdup — variant overlaps a segmental duplication. Multi-mapping reads may inflate allele counts or produce false-positive calls. Consider with caution in a clinical context.
Allele balance · alt carriers
Allele balance distribution for alt carriers.
Expected heterozygous AB ≈ 0.5. Values near 0 or 1 may indicate homozygosity or data quality issues.
Read depth distribution (all genotypes)
Read depth distribution across all genotypes.
Genotype quality distribution
Genotype quality distribution across all genotypes.
Strand bias table (SB)
ForwardReverse
Reference
 166 155
Alternate
 164 159
Genotype quality · alt carriers only
GQ distribution for alt allele carriers.
Alt-carrier GQ distribution. High GQ (≥20) indicates confident heterozygous calls.
Read depth · alt carriers only
Depth distribution for alt allele carriers.
Applied filters
PASS singleton was_split
Age at recruitment for heterozygous carriers observed in the HostSeq cohort. Age data is available only for a subset of participants.
Age distribution · heterozygous carriers
Age distribution for heterozygous carriers.
Carriers below age 30: 1
Age distribution · homozygous carriers
Age distribution for homozygous carriers.
Dataset information
Dataset name
gnomAD Canada v1.0
Cohort
HostSeq
Data type
Whole genome sequencing
Reference genome
GRCh38
Total genomes
10,487
Alleles (this variant)
18,422
Alt allele count
11
Homozygotes
0
Cross-reference links
gnomAD v4.1 (global) gnomad.broadinstitute.org
gnomAD v2.1 (exome) gnomad.broadinstitute.org
ClinVar — NM_007194.4:c.1312G>T ncbi.nlm.nih.gov
Variant interpretation (LYFE Sciences) Back to full report
Acknowledgements & data use
Required attribution · gnomAD Canada v1.0
About this display
LYFE Sciences is an independent, unfunded variant interpretation tool. This page displays population frequency data from gnomAD Canada v1.0; I did not generate, fund, or contribute to this dataset. All data belongs to the gnomAD Canada project and the HostSeq cohort. I am presenting it in a convenient format alongside variant interpretation.
Data source
All population frequency data on this page originates from gnomAD Canada v1.0, produced from the HostSeq whole-genome sequencing cohort and made publicly available by the BC Genome Sciences Centre (BCGSC). The official gnomAD Canada browser is at gnomad.ca and the BCGSC instance at bcgsc.ca/gnomad. Please cite the original resource if you use this data in research.
Population labels
Population ancestry labels are reproduced exactly as provided by gnomAD Canada and the HostSeq cohort. These labels reflect ancestry inference using gnomAD v4 reference population PCA and are governed by the Indigenous data sovereignty principles of the Silent Genomes Project and the Indigenous Background Variant Library (IBVL).
Key references
1
Yoo S et al. HostSeq: a Canadian whole genome sequencing and clinical data resource. BMC Genom Data. 2023. doi:10.1186/s12863-023-01128-3
2
Chen S*, Francioli LC* et al. A genomic mutational constraint map using variation in 76,156 human genomes. Nature. 625, 92–100 (2024). doi:10.1038/s41586-023-06045-0