rs58922911
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;T) | 0 | Likely miscall by 23andMe (and other genotyping companies); otherwise, dominant cardiomyopathy mutation |
| (T;T) | 0 | common in clinvar |
| Make rs58922911(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 156115094 |
| Gene | LMNA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs58922911 |
| dbSNP (classic) | rs58922911 |
| ClinGen | rs58922911 |
| ebi | rs58922911 |
| HLI | rs58922911 |
| Exac | rs58922911 |
| Gnomad | rs58922911 |
| Varsome | rs58922911 |
| LitVar | rs58922911 |
| Map | rs58922911 |
| PheGenI | rs58922911 |
| Biobank | rs58922911 |
| 1000 genomes | rs58922911 |
| hgdp | rs58922911 |
| ensembl | rs58922911 |
| geneview | rs58922911 |
| scholar | rs58922911 |
| rs58922911 | |
| pharmgkb | rs58922911 |
| gwascentral | rs58922911 |
| openSNP | rs58922911 |
| 23andMe | rs58922911 |
| SNPshot | rs58922911 |
| SNPdbe | rs58922911 |
| MSV3d | rs58922911 |
| GWAS Ctlg | rs58922911 |
| Max Magnitude | 0 |
rs58922911, also known as c.176T>G, p.Leu59Arg and L59R, represents a rare variant in the LMNA gene on chromosome 1.
In ClinVar, the rs58922911(G) allele is listed, linked to OMIM records citing two publications indicating it could be causative for a dominantly inherited form of cardiomyopathy.
In gnomAD/ExAC, there is no listing for this variant, even though the region has been sequenced in over 100,000 individuals, so presumably it is a very rare variant.
In Promethease reports from 23andMe data collected in mid-2017, over 10% of all reports contain the rs58922911(G;T) genotype, indicating this SNP is quite likely to be routinely miscalled on the DNA chip in use by that company (and most likely by other companies using similar technology).
| ClinVar | |
|---|---|
| Risk | rs58922911(G;G) |
| Alt | rs58922911(G;G) |
| Reference | Rs58922911(T;T) |
| Significance | Pathogenic |
| Disease | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome not provided |
| Variation | info |
| Gene | LMNA |
| CLNDBN | Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.156084885T>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015627.26, RCV000057357.1, |
