GENE REFERENCE / HGNC:29216

ARHGAP31

Rho GTPase activating protein 31

protein-coding gene3q13.32-q13.33Gene information

What does this gene do?

The ARHGAP31 gene provides instructions for making a protein classified as a Rho GTPase activating protein (GAP). GAPs turn off (inactivate) proteins called GTPases, which play an important role in chemical signaling within cells. Often referred to as molecular switches, GTPases can be turned on and off. They are turned on (active) when they are attached (bound) to a molecule called GTP and are turned off when they are bound to another molecule called GDP. The ARHGAP31 protein inactivates GTPases known as Cdc42 and Rac1 by stimulating a reaction that turns the attached GTP into GDP. When active, Cdc42 and Rac1 transmit signals that are critical for various aspects of embryonic development. The ARHGAP31 protein appears to regulate these GTPases specifically during development of the limbs, skull, and heart.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2015-11.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 716
Submissions for variants in or overlapping this gene: 1,070
Submissions explicitly reporting this gene: 1,019
Alleles reported pathogenic / likely pathogenic: 5
VariationIDs with uncertain significance: 389
VariationIDs with conflicting classifications: 37

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ARHGAP31?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 5 alleles in ARHGAP31 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ARHGAP31.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

Buy BioDecode See a sample report →Check file compatibility →