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NM_007118.4(TRIO):c.7711A>T (p.Asn2571Tyr) AND Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

Germline classification:
Uncertain significance (1 submission)
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:
RCV003333814.1

Allele description [Variation Report for NM_007118.4(TRIO):c.7711A>T (p.Asn2571Tyr)]

NM_007118.4(TRIO):c.7711A>T (p.Asn2571Tyr)

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.7711A>T (p.Asn2571Tyr)
HGVS:
  • NC_000005.10:g.14492645A>T
  • NG_052962.1:g.353944A>T
  • NM_007118.4:c.7711A>TMANE SELECT
  • NP_009049.2:p.Asn2571Tyr
  • NC_000005.9:g.14492754A>T
  • NR_134469.2:n.7565A>T
Protein change:
N2571Y
Molecular consequence:
  • NM_007118.4:c.7711A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134469.2:n.7565A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004041612Institute of Human Genetics, University of Wuerzburg
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV004041612.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 14, 2023