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NM_007363.5(NONO):c.279_282del (p.Phe94fs) AND Syndromic X-linked intellectual disability 34

Germline classification:
Pathogenic (1 submission)
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:
RCV002274463.2

Allele description [Variation Report for NM_007363.5(NONO):c.279_282del (p.Phe94fs)]

NM_007363.5(NONO):c.279_282del (p.Phe94fs)

Gene:
NONO:non-POU domain containing octamer binding [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_007363.5(NONO):c.279_282del (p.Phe94fs)
HGVS:
  • NC_000023.11:g.71291903_71291906del
  • NG_046742.1:g.13712_13715del
  • NM_001145408.2:c.279_282del
  • NM_001145409.2:c.279_282del
  • NM_001145410.2:c.12_15del
  • NM_007363.5:c.279_282delMANE SELECT
  • NP_001138880.1:p.Phe94fs
  • NP_001138881.1:p.Phe94fs
  • NP_001138882.1:p.Phe5fs
  • NP_031389.3:p.Phe94fs
  • NC_000023.10:g.70511753_70511756del
Protein change:
F5fs
Links:
dbSNP: rs2148033495
NCBI 1000 Genomes Browser:
rs2148033495
Molecular consequence:
  • NM_001145408.2:c.279_282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145409.2:c.279_282del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145410.2:c.12_15del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007363.5:c.279_282del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Syndromic X-linked intellectual disability 34 (MRXS34)
Synonyms:
MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE; Intellectual developmental disorder, X-linked syndromic 34
Identifiers:
MONDO: MONDO:0010501; MedGen: C4225417; OMIM: 300967

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002559187Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicinheritedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille, SCV002559187.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024