SNV:10-103990440-G-A (GRCh37)
- gnomAD v2.1.1
- 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
- ExAC60,706 samples
| Exomes | Genomes | Total | |
|---|---|---|---|
| Filters | No variant | Pass | |
| Allele Count | 3 | 3 | |
| Allele Number | 152044 | 152044 | |
| Allele Frequency | 0.00001973 | 0.00001973 | |
| Grpmax Filtering AF (95% confidence) | 0.00005290 Admixed American | ||
| Number of homozygotes | 1 | 1 | |
| Mean depth of coverage | – | 31.1 |
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Report an issue with this variantGenetic Ancestry Group Frequencies
| 3 | 15270 | 1 | 0.0001965 | ||
| 0 | 68028 | 0 | 0.000 | ||
| 0 | 41364 | 0 | 0.000 | ||
| 0 | 3472 | 0 | 0.000 | ||
| 0 | 5184 | 0 | 0.000 | ||
| 0 | 10586 | 0 | 0.000 | ||
| 0 | 4824 | 0 | 0.000 | ||
| 0 | 2088 | 0 | 0.000 | ||
| XX | 1 | 77794 | 0 | 0.00001285 | |
| XY | 2 | 74250 | 1 | 0.00002694 | |
| Total | 3 | 150816 | 1 | 0.00001989 | |
* Allele frequencies for some sub-continental populations were not computed for genome samples.
Related Variants
Variant Co-occurrence
Check if this variant occurs on the same haplotype as another variant.
Nearby Variants
Variant Effect Predictor
This variant falls on 16 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
NSD2
- ENST00000508803.6MANE Select transcript for NSD2
- HGVSp
- p.Lys17Asn
- Domains
- PTHR22884 (PANTHER)
- Polyphen
- benign
- SIFT
- tolerated_low_confidence
- ENST00000382895.7Ensembl canonical transcript for NSD2
- HGVSp
- p.Lys17Asn
- Domains
- PTHR22884 (PANTHER)
- Polyphen
- benign
- SIFT
- tolerated_low_confidence
- ENST00000382891.9
- HGVSp
- p.Lys17Asn
- Domains
- PTHR22884 (PANTHER)
- Polyphen
- benign
- SIFT
- tolerated_low_confidence
- ENST00000508803.6
non coding transcript exon
NSD2
- ENST00000508355.5
- HGVSc
- n.169G>C
- ENST00000508355.5
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- REVEL: 0.0810
- CADD: 17.4
- SpliceAI: 0.00 (no_consequence)
- PrimateAI: 0.366
ClinVar
- ClinVar Variation ID
- 3202300
- Conditions
- Inborn genetic diseases
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- June 21, 2021
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
Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 2.009e+3 (genome samples)
This is the site quality distribution for all genome variants with 0 <= AF < 0.00005.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
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