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NM_005052.3(RAC3):c.86C>T (p.Pro29Leu) AND Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 8, 2022
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:
RCV000850260.3

Allele description [Variation Report for NM_005052.3(RAC3):c.86C>T (p.Pro29Leu)]

NM_005052.3(RAC3):c.86C>T (p.Pro29Leu)

Gene:
RAC3:Rac family small GTPase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q25.3
Genomic location:
Preferred name:
NM_005052.3(RAC3):c.86C>T (p.Pro29Leu)
HGVS:
  • NC_000017.11:g.82032437C>T
  • NM_001316307.2:c.86C>T
  • NM_005052.3:c.86C>TMANE SELECT
  • NP_001303236.1:p.Pro29Leu
  • NP_005043.1:p.Pro29Leu
  • NC_000017.10:g.79990313C>T
  • NM_005052.2:c.86C>T
Protein change:
P29L; PRO29LEU
Links:
OMIM: 602050.0003; dbSNP: rs1568018697
NCBI 1000 Genomes Browser:
rs1568018697
Molecular consequence:
  • NM_001316307.2:c.86C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005052.3:c.86C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF)
Identifiers:
MONDO: MONDO:0032820; MedGen: C5231416; OMIM: 618577

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000992432OMIM
no assertion criteria provided
Pathogenic
(Nov 8, 2022)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.

Costain G, Callewaert B, Gabriel H, Tan TY, Walker S, Christodoulou J, Lazar T, Menten B, Orkin J, Sadedin S, Snell M, Vanlander A, Vergult S, White SM, Scherer SW, Hayeems RZ, Blaser S, Wodak SJ, Chitayat D, Marshall CR, Meyn MS.

Genet Med. 2019 Apr;21(4):1021-1026. doi: 10.1038/s41436-018-0323-y. Epub 2018 Oct 8.

PubMed [citation]
PMID:
30293988

Details of each submission

From OMIM, SCV000992432.2

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

Description

In a 5-year-old boy of Caucasian descent (family II) with neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF; 618577), Costain et al. (2019) identified a de novo heterozygous c.86C-T transition (c.86C-T, NM_005052.2) in the RAC3 gene, resulting in a pro29-to-leu (P29L) substitution at a conserved residue. The mutation, which was found by exome sequencing, was not present in the gnomAD database. Functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Sep 16, 2024