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NM_006908.5(RAC1):c.151G>C (p.Val51Leu) AND Intellectual disability, autosomal dominant 48

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 29, 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:
RCV000515028.3

Allele description [Variation Report for NM_006908.5(RAC1):c.151G>C (p.Val51Leu)]

NM_006908.5(RAC1):c.151G>C (p.Val51Leu)

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.151G>C (p.Val51Leu)
HGVS:
  • NC_000007.14:g.6391967G>C
  • NG_029431.1:g.22473G>C
  • NM_006908.5:c.151G>CMANE SELECT
  • NM_018890.4:c.151G>C
  • NP_008839.2:p.Val51Leu
  • NP_061485.1:p.Val51Leu
  • NC_000007.13:g.6431598G>C
  • NM_006908.4:c.151G>C
Protein change:
V51L; VAL51LEU
Links:
OMIM: 602048.0006; dbSNP: rs1554263625
NCBI 1000 Genomes Browser:
rs1554263625
Molecular consequence:
  • NM_006908.5:c.151G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018890.4:c.151G>C - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000609510OMIM
no assertion criteria provided
Pathogenic
(Mar 29, 2023) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D; Deciphering Developmental Disorders Study., Millard TH, Katsanis N, Brunner HG, Banka S.

Am J Hum Genet. 2017 Sep 7;101(3):466-477. doi: 10.1016/j.ajhg.2017.08.007.

PubMed [citation]
PMID:
28886345
PMCID:
PMC5591022

Details of each submission

From OMIM, SCV000609510.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 4.5-year-old boy (patient 7) with autosomal dominant intellectual developmental disorder-48 (MRD48; 617751) Reijnders et al. (2017) identified a de novo heterozygous c.151G-C transversion (c.151G-C, NM_006908) in exon 3 of the RAC1 gene, resulting in a val51-to-leu (V51L) substitution at a highly conserved residue. The mutation, which was found by whole-exome sequencing, was not found in the ExAC database or an in-house database. This patient had significant macrocephaly (+4.5 SD), as did an unrelated patient (patient 6) who had a different mutation affecting the same codon (V51M; 602048.0005).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2024