Deletion (1 base) : 12-120994311 - CG-C (GRCh38) Copy variant ID Gene page
Dataset More information Exomes Genomes Total Filters More information Pass Pass
Allele Count 4 1 5 Allele Number 251408 * 31398 * 282806 * Allele Frequency 0.00001591 0.00003185 0.00001768 Grpmax Filtering AF More information (95% confidence)0.00001122 European (non-Finnish)
— Number of homozygotes 0 0 0
Warning This variant is covered in fewer than 50% of individuals in both gnomAD v4.1.0 exomes and genomes. This may indicate a low-quality site.
Genetic Ancestry Group Frequencies More information HGDP population frequencies are not available for this variant.
1000 Genomes Project population frequencies are not available for this variant.
Local ancestry is not available for this variant. Local ancestry is only available for bi-allelic variants with high call rates and with an allele frequency > 0.1% within the Latino/Admixed American or African/African-American gnomAD ancestry groups.
Related Variants Other Alternate Alleles This variant is multiallelic. Other alternate alleles are:
Liftover This variant lifts over to the following GRCh38 variant:
Variant Effect Predictor This variant falls on 5 transcripts in 2 genes.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
missense ENST00000292427.4 Ensembl canonical transcript for CYP11B1
HGVSp p.Val316Met
Polyphen probably_damaging
SIFT deleteriousENST00000377675.3
HGVSp p.Val387Met
Polyphen benign
SIFT deleteriousENST00000517471.1
HGVSp p.Val316Met
Polyphen probably_damaging
SIFT deleteriousintron ENST00000522728.1
HGVSc c.181+35024C>T non coding transcript exon ENST00000314111.4
HGVSc n.979G>A Genomic Constraint of Surrounding 1kb Region This variant does not have non coding constraint data for the surrounding region.
ClinVar
ClinVar Variation ID 995869
Germline classification Pathogenic/Likely pathogenic
Review status criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated March 30, 2024 See all 4 submissions or find more information on the ClinVar website . Data displayed here is from ClinVar's December 30, 2024 release.
Age Distribution More information Variant carriers All individuals < 30 30-35 35-40 40-45 45-50 50-55 55-60 60-65 65-70 70-75 75-80 > 80 Age 0 1 Variant carriers 0 10.0K 20.0K 30.0K 40.0K 50.0K 60.0K 70.0K 80.0K 90.0K 100K 110K All individuals Site Quality Metrics 1e1 1e1.5 1e2 1e2.5 1e3 1e3.5 1e4 1e4.5 1e5 1e5.5 1e6 1e6.5 1e7 1e7.5 1e8 1e8.5 1e9 1e9.5 1e10 SiteQuality 0 2.00M 4.00M 6.00M 8.00M 10.0M 12.0M 14.0M Exome variants 0 10.0M 20.0M 30.0M 40.0M 50.0M 60.0M 70.0M 80.0M 90.0M Genome variants 1.138e+3 1.532e+4
Metric: SiteQuality inbreeding_coeff AS_FS AS_MQ AS_MQRankSum AS_pab_max AS_QUALapprox AS_QD AS_ReadPosRankSum AS_SOR AS_VarDP AS_VQSLOD Sequencing types: Exome and Genome Exome Genome
Value: 1.532e+4 (exome samples), 1.138e+3 (genome samples)
Site quality approximation for all singleton variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Metric Exome samples Genome samples SiteQuality 1.532e+4 1.138e+3 inbreeding_coeff AS_FS AS_MQ AS_MQRankSum AS_pab_max AS_QUALapprox AS_QD AS_ReadPosRankSum AS_SOR AS_VarDP AS_VQSLOD