NM_006908.5(RAC1):c.181C>G (p.Gln61Glu) AND Intellectual disability, autosomal dominant 48

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 28, 2023
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003156716.1

Allele description [Variation Report for NM_006908.5(RAC1):c.181C>G (p.Gln61Glu)]

NM_006908.5(RAC1):c.181C>G (p.Gln61Glu)

Gene:

RAC1:Rac family small GTPase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

Preferred name:

NM_006908.5(RAC1):c.181C>G (p.Gln61Glu)

HGVS:

NC_000007.14:g.6391997C>G
NG_029431.1:g.22503C>G
NM_006908.5:c.181C>GMANE SELECT
NM_018890.3:c.181C>G
NM_018890.4:c.181C>G
NP_008839.2:p.Gln61Glu
NP_061485.1:p.Gln61Glu
NC_000007.13:g.6431628C>G
NM_006908.4:c.181C>G

Protein change:

Q61E; GLN61GLU

Links:

OMIM: 602048.0007

Molecular consequence:

NM_006908.5:c.181C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_018890.4:c.181C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Intellectual disability, autosomal dominant 48
Synonyms:: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 48
Identifiers:: MONDO: MONDO:0030913; MedGen: C4540321; OMIM: 617751

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003845960	OMIM	no assertion criteria provided	Pathogenic (Mar 28, 2023)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003845960

OMIM

no assertion criteria provided

Pathogenic
(Mar 28, 2023)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.

Banka S, Bennington A, Baker MJ, Rijckmans E, Clemente GD, Ansor NM, Sito H, Prasad P, Anyane-Yeboa K, Badalato L, Dimitrov B, Fitzpatrick D, Hurst ACE, Jansen AC, Kelly MA, Krantz I, Rieubland C, Ross M, Rudy NL, Sanz J, Stouffs K, Xu ZL, et al.

Brain. 2022 Dec 19;145(12):4232-4245. doi: 10.1093/brain/awac049.

PubMed [citation]

PMID:: 35139179
PMCID:: PMC9762944

Details of each submission

From OMIM, SCV003845960.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 2-year-old girl (patient 1) with autosomal dominant intellectual developmental disorder-48 (MRD48; 617751), Banka et al. (2022) identified heterozygosity for a c.181C-G transversion (c.181C-G, NM_006908.4) in the RAC1 gene, resulting in a gln61-to-glu (Q61E) substitution in the RAC1 switch II region. The mutation, which was identified as part of the Deciphering Developmental Disorders Study, was found to be de novo.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 7, 2023

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