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LASP1

Synonyms
Lasp-1, MLN50
External resources
Summary
This gene encodes a member of a subfamily of LIM proteins, characterized by a LIM motif and a domain of Src homology region 3, and also a member of the nebulin family of actin-binding proteins. The encoded protein is a cAMP and cGMP dependent signaling protein and binds to the actin cytoskeleton at extensions of the cell membrane. The encoded protein has been linked to metastatic breast cancer, hematopoetic tumors such as B-cell lymphomas, and colorectal cancer.

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
4
Likely pathogenic
441
VUS
3,333
Likely benign
276
Benign
0

Patient phenotypes

Proportions of phenotypes among 443 patients carrying pathogenic or likely pathogenic variants on LASP1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.9%
Abnormality of the cardiovascular system
26.9%
Abnormality of the musculoskeletal system
22.3%
Abnormality of head or neck
19%
Abnormality of the ear
15.3%
Abnormality of the eye
13.5%
Growth abnormality
12%
Abnormality of the integument
9.7%
Abnormality of limbs
7.9%
Abnormality of the genitourinary system
7.7%
Abnormality of the digestive system
7%
Abnormality of the immune system
6.3%
Abnormality of blood and blood-forming tissues
5.9%
Abnormality of the endocrine system
4.7%
Abnormality of the respiratory system
4.1%
Abnormality of prenatal development or birth
2.5%
Neoplasm
2.3%
Constitutional symptom
0.7%
Abnormality of the breast
0.5%
Abnormal cellular phenotype
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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