U.S. flag

An official website of the United States government

NM_033066.3(MPP4):c.946T>C (p.Trp316Arg) AND multiple conditions

Germline classification:
Pathogenic (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:
RCV000416477.2

Allele description [Variation Report for NM_033066.3(MPP4):c.946T>C (p.Trp316Arg)]

NM_033066.3(MPP4):c.946T>C (p.Trp316Arg)

Gene:
MPP4:MAGUK p55 scaffold protein 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q33.1
Genomic location:
Preferred name:
NM_033066.3(MPP4):c.946T>C (p.Trp316Arg)
HGVS:
  • NC_000002.12:g.201675255A>G
  • NG_012654.1:g.28440T>C
  • NM_033066.3:c.946T>CMANE SELECT
  • NP_149055.2:p.Trp316Arg
  • NC_000002.11:g.202539978A>G
  • NM_033066.2:c.946T>C
Protein change:
W316R
Links:
dbSNP: rs1057519443
NCBI 1000 Genomes Browser:
rs1057519443
Molecular consequence:
  • NM_033066.3:c.946T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
High palate
Identifiers:
MedGen: C0240635; Human Phenotype Ontology: HP:0000218
Name:
Wide nasal bridge
Identifiers:
MedGen: C1849367; Human Phenotype Ontology: HP:0000431
Name:
Strabismus
Identifiers:
MONDO: MONDO:0003432; MedGen: C0038379; Human Phenotype Ontology: HP:0000486
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Generalized hypotonia
Identifiers:
MedGen: C1858120; Human Phenotype Ontology: HP:0001290

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494169Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
no assertion criteria provided
Pathogenicde novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000494169.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

This variant was identified in an individual with developmental delay, seizures, high arched palate, broad nasal bridge, strabismus, hypotonia.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024