Home / BRCA1 c.5073A>G / gnomAD Canada
gnomAD Canada v1.0 · HostSeq
NM_007294.3:c.5073A>G
NP_009225.1:p.(Thr1691=)  ·  BRCA1
GRCh38
chr17:43067609 T>C
GRCh37
chr17:41219626 T>C
rsID
—
Type
SNV
Allele type
—
Cohort
HostSeq (10,487 genomes)
Flags
PASS
Allele frequency
Absent
0 / — alleles
PASS
Position not genotyped in HostSeq
This genomic position has no coverage data in the gnomAD Canada v1.0 HostSeq cohort. This may be due to low mappability, a segmental duplication region, or position falling outside callable regions. No frequency inference can be made from this dataset for this variant.
Allele count
0
adjusted · —
Allele number
—
adjusted · —
Allele frequency
0
0.0000% MAF
Homozygotes
0
alt hom carriers
grpmax FAF95
—
· AC=0 AN=—
FAF95 max
—
—
FAF99 max
—
—
Cohort size
10,487
whole genomes
Population frequency breakdown is not available — this position was not genotyped in the HostSeq cohort.
Sex-stratified data is not available — this variant was not observed in the HostSeq cohort.
Region flags
LCR (low complexity region) segdup (segmental duplication) monoallelic
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.
No age distribution data available for this variant in the HostSeq cohort.
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)
—
Alt allele count
0
Homozygotes
0
Cross-reference links
gnomAD v4.1 (global) gnomad.broadinstitute.org
gnomAD v2.1 (exome) gnomad.broadinstitute.org
ClinVar — NM_007294.3:c.5073A>G 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