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SOS1

Synonyms
GF1, GGF1, GINGF, HGF, NS4, SOS-1
External resources
Summary
This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
20
Likely pathogenic
11
VUS
1,797
Likely benign
2,174
Benign
4,032

Patient phenotypes

Proportions of phenotypes among 26 patients carrying pathogenic or likely pathogenic variants on SOS1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the cardiovascular system
42.3%
Abnormality of head or neck
38.5%
Abnormality of the musculoskeletal system
34.6%
Abnormality of the eye
23.1%
Abnormality of the ear
19.2%
Abnormality of limbs
15.4%
Abnormality of the digestive system
15.4%
Abnormality of the integument
15.4%
Abnormality of blood and blood-forming tissues
11.5%
Abnormality of the genitourinary system
11.5%
Growth abnormality
11.5%
Abnormality of prenatal development or birth
7.7%
Abnormality of the respiratory system
7.7%
Abnormality of the breast
3.8%
Abnormality of the immune system
3.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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