Genetic variant
rs113993993 a variant in the SBDS gene
rs113993993 is a single-letter difference in the SBDS gene, on chromosome 7. ClinVar, the public archive of variant interpretations, lists it as likely pathogenic: probably able to cause or contribute to disease. It has been reported in connection with Aplastic anemia, susceptibility to and Shwachman-Diamond syndrome 1, among others. Carrying it does not, on its own, mean you have or will develop any condition.
What is this?
Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs113993993 is the catalogue number of one of them, in the SBDS gene. Which letters you carry there — one copy from each parent — is your genotype.
SBDS (SBDS ribosome maturation factor): This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome.
Gene description from NCBI Gene
Why might it matter?
ClinVar records this variant as likely pathogenic, meaning probably able to cause or contribute to disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.
Conditions it has been reported with
- Aplastic anemia, susceptibility to
- Shwachman-Diamond syndrome 1
- Inborn genetic diseases
- Microcephaly
- Splenomegaly
- Agenesis of permanent teeth
- Deeply set eye
- Short stature
- Shwachman syndrome
- SBDS-related disorder
- Lymphoma
- Ovarian serous cystadenocarcinoma
Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.
Do I have this variant?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs113993993, if your test read this position.
Connect this with your blood results
A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.
Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.
What should I do next?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.
This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.
Technical details
- dbSNP ID
- rs113993993
- Gene
- SBDS
- Position
- chr7:66994210
- ClinVar classification
- Pathogenic/Likely pathogenic
Sources
- dbSNP: rs113993993 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: SBDS
- Ensembl: SBDS