NM_007118.4(TRIO):c.4343G>A (p.Gly1448Glu) AND Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 24, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003984953.1

Allele description

NM_007118.4(TRIO):c.4343G>A (p.Gly1448Glu)

Gene:

TRIO:trio Rho guanine nucleotide exchange factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.2

Genomic location:

Preferred name:

NM_007118.4(TRIO):c.4343G>A (p.Gly1448Glu)

HGVS:

NC_000005.10:g.14397074G>A
NG_052962.1:g.258373G>A
NM_007118.4:c.4343G>AMANE SELECT
NP_009049.2:p.Gly1448Glu
NC_000005.9:g.14397183G>A
NR_134469.2:n.4727G>A

Protein change:

G1448E

Molecular consequence:

NM_007118.4:c.4343G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_134469.2:n.4727G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome (MRD44)
Synonyms:: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
Identifiers:: MONDO: MONDO:0014892; MedGen: C4310740; OMIM: 617061

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004801068	Medizinische Genetik Mainz, Limbach Genetics GmbH	criteria provided, single submitter (UK Practice Guidelines For Variant Classification V4 01 2020)	Likely pathogenic (Aug 24, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004801068

Medizinische Genetik Mainz, Limbach Genetics GmbH

criteria provided, single submitter

(UK Practice Guidelines For Variant Classification V4 01 2020)

Likely pathogenic
(Aug 24, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Medizinische Genetik Mainz, Limbach Genetics GmbH, SCV004801068.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

PM1,PM2_SUP,PM5_SUP,PP2

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

Last Updated: Mar 23, 2024

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