Gene
SOS1
SOS Ras/Rac guanine nucleotide exchange factor 1
- HGNC 11187(opens in a new tab)
- Ensembl gene ENSG00000115904(opens in a new tab)
- NCBI Gene 6654(opens in a new tab)
Summary
- Cytogenetic location
- 2p22.1
- Coordinates
- Chromosome 2: 38,981,549–39,121,051 (GRCh38)
- Exons
- 23 exons across 139.5 kb
- Protein
- 1,333 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- HGF, GF1
- Previous symbols
- GINGF
- MANE Select transcript
- ENST00000402219.8NM_005633.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Hereditary Gingival Fibromatosis
- Autosomal dominant
Slowly progressive, non-inflammatory overgrowth of the gum tissue, linked to genes such as SOS1 and REST, often starting when the permanent teeth erupt.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing can support an earlier diagnosis and planning of gum surgery and orthodontic care, and inform relatives.
Noonan Syndrome
- Autosomal dominant
Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Cardiac surveillance, developmental support, growth hormone therapy, genetic counseling, MEK inhibitor trials
- Noonan Syndrome and Noonan-Related Syndromes
A group of RAS pathway conditions, including Noonan, Costello, cardiofaciocutaneous and Legius syndromes, with variable heart defects, short stature and distinctive facial features.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Knowing about it supports heart, growth and developmental assessment.
Broader groupings
Hypertrophic Cardiomyopathy
- Autosomal dominant
One of 62 genes linked to it
A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Beta-blockers, non-dihydropyridine calcium channel blockers, activity restriction, genetic counseling
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How SOS1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8.9 kb of the gene's 139.5 kb; 4,002 of those bases code for the protein.
How a genome test reads SOS1
51
positions in SOS1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 139.5 kb of SOS1, introns included, not only the 8.9 kb of exons.
Variants with a page (13)
The SOS1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| E108K | c.322G>A | Exon 3 | 39,058,696 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E846K | c.2536G>A | Exon 16 | 39,007,168 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| F623I | c.1867T>A | Exon 11 | 39,014,838 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K170E | c.508A>G | Exon 4 | 39,056,704 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| M269T | c.806T>C | Exon 6 | 39,051,202 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R552G | c.1654A>G | Exon 10 | 39,022,774 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R552K | c.1655G>A | Exon 10 | 39,022,773 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R552M | c.1655G>T | Exon 10 | 39,022,773 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| R552S | c.1656G>T | Exon 10 | 39,022,772 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R552T | c.1655G>C | Exon 10 | 39,022,773 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
Traits linked to SOS1
The Human Phenotype Ontology lists these as features of the rare conditions SOS1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Abnormality of the sternum
- Delayed bone maturation
- Funnel chest
- Scoliosis
- Double-Jointed
- Muscle weakness
- Pigeon chest
- Wide rib cage
Show 3 more traits
Abnormality of blood and blood-forming tissues
- Prolonged partial thromboplastin time
- Reduced factor VIII activity
- Reduced factor XI activity
- Abnormal platelet function
- Abnormality of coagulation
- Bleeding tendency
- Bruising susceptibility
- Juvenile myelomonocytic leukemia
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SOS1 gene: SOS Ras/Rac guanine nucleotide exchange factor 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/sos1
Dante Labs. SOS1 gene: SOS Ras/Rac guanine nucleotide exchange factor 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/sos1
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