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SNV:17-7676040-C-A (GRCh38)
Dataset
- gnomAD v3.1.2
- 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
| Genomes | |
|---|---|
| Filters | Pass |
| Allele Count | 1 |
| Allele Number | 152174 |
| Allele Frequency | 0.000006571 |
| Grpmax Filtering AF (95% confidence) | — |
| Number of homozygotes | 0 |
| Mean depth of coverage | 31.2 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 68032 | 0 | 0.00001470 | ||
| 0 | 10614 | 0 | 0.000 | ||
| 0 | 15276 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5184 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| 0 | 41436 | 0 | 0.000 | ||
| 0 | 4838 | 0 | 0.000 | ||
| 0 | 3472 | 0 | 0.000 | ||
| 0 | 2094 | 0 | 0.000 | ||
| XX | 1 | 77844 | 0 | 0.00001285 | |
| XY | 0 | 74330 | 0 | 0.000 | |
| Total | 1 | 152174 | 0 | 0.000006571 | |
Include:
Related Variants
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 18 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
missense
TP53
- ENST00000269305.9MANE Select transcript for TP53
- HGVSp
- p.Arg110Leu
- Domains
- Polyphen
- benign
- SIFT
- deleterious
- ENST00000359597.8
- HGVSp
- p.Arg110Leu
- Domains
- Polyphen
- benign
- SIFT
- deleterious
- ENST00000413465.6
- HGVSp
- p.Arg110Leu
- Domains
- Polyphen
- benign
- SIFT
- deleterious
- ENST00000269305.9
intron
TP53
- ENST00000509690.5
- HGVSc
- c.-21-804G>T
- ENST00000514944.5
- HGVSc
- c.96+342G>T
- ENST00000509690.5
non coding transcript exon
TP53
- ENST00000505014.5
- HGVSc
- n.585G>T
- ENST00000505014.5
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- REVEL: 0.632
- CADD: 17.7
- SpliceAI: 0.0100 (donor_gain)
- PrimateAI: 0.354
Genomic Constraint of Surrounding 1kb Region
This variant does not have non coding constraint data for the surrounding region.ClinVar
- ClinVar Variation ID
- 406597
- Conditions
- Ovarian neoplasm, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Adrenal cortex carcinoma, Li-Fraumeni syndrome, not provided
- Germline classification
- Pathogenic/Likely pathogenic
- Review status
- criteria provided, multiple submitters, no conflicts (2 stars)
- Last evaluated
- August 29, 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: 9.520e+3 (genome samples)
Site quality approximation for all singleton variants.
Read Data
Always load read data