SNV:9-129430707-A-C (GRCh38)
- gnomAD v4.1.0
- GRCh38
- gnomAD v4.1.0807,162 samples
- gnomAD v4.1.0 (non-UKB)314,392 samples
- gnomAD v3.1.276,156 samples
- gnomAD v3.1.2 (non-cancer)74,023 samples
- gnomAD v3.1.2 (non-neuro)67,442 samples
- gnomAD v3.1.2 (non-v2)57,344 samples
- gnomAD v3.1.2 (non-TOPMed)40,433 samples
- gnomAD v3.1.2 (controls/biobanks)16,465 samples
- GRCh37
- gnomAD v2.1.1141,456 samples
- gnomAD v2.1.1 (non-TOPMed)135,743 samples
- gnomAD v2.1.1 (non-cancer)134,187 samples
- gnomAD v2.1.1 (non-neuro)114,704 samples
- gnomAD v2.1.1 (controls)60,146 samples
| Exomes | Genomes | Total | |
|---|---|---|---|
| Filters | Pass | No variant | |
| Allele Count | 1 | 1 | |
| Allele Number | 251384 * | 251384 * | |
| Allele Frequency | 0.000003978 | 0.000003978 | |
| Grpmax Filtering AF (95% confidence) | — | ||
| Number of homozygotes | 0 | 0 |
Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 exomes. Allele frequency estimates may not be reliable.
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
| 1 | 113696 | 0 | 0.000008795 | ||
| 0 | 16256 | 0 | 0.000 | ||
| 0 | 34582 | 0 | 0.000 | ||
| 0 | 10072 | 0 | 0.000 | ||
| 0 | 18392 | 0 | 0.000 | ||
| 0 | 21640 | 0 | 0.000 | ||
| 0 | 30616 | 0 | 0.000 | ||
| 0 | 0 | 0 | - | ||
| 0 | 0 | 0 | - | ||
| 0 | 0 | 0 | - | ||
| XX | 0 | 115504 | 0 | 0.000 | |
| XY | 1 | 135880 | 0 | 0.000007359 | |
| Total | 1 | 245254 | 0 | 0.000004077 | |
Related Variants
Liftover
This variant lifts over to the following GRCh38 variant:
- 20-35286764-C-T
View variant in gnomAD v4.1.0
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 1 transcript in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
missense
FAM83C
- ENST00000374408.3Ensembl canonical transcript for FAM83C
- HGVSp
- p.Arg672Gln
- Domains
- PTHR16181 (hmmpanther)
- Polyphen
- benign
- SIFT
- tolerated_low_confidence
- ENST00000374408.3
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 20-33874000-33875000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 127.1 | 128 | Z = -0.08 o/e = 1.01 |
View the genomic constraint values for the 40kb region surrounding this variant: 20-33854567-33894567
ClinVar
- ClinVar Variation ID
- 3277513
- Conditions
- not specified
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- April 24, 2024
or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.
Age Distribution
- Exome
- Genome
- Variant carriers
- All individuals
Genotype Quality Metrics
- Genotype quality
- Depth
- Allele balance for heterozygotes
- Exome
- Genome
- Variant carriers
- All individuals
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 1.304e+3 (exome samples)
Site quality approximation for all singleton variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
Always load read data