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NM_007363.5(NONO):c.1408C>T (p.Arg470Ter) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 27, 2022
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:
RCV002470015.1

Allele description [Variation Report for NM_007363.5(NONO):c.1408C>T (p.Arg470Ter)]

NM_007363.5(NONO):c.1408C>T (p.Arg470Ter)

Gene:
NONO:non-POU domain containing octamer binding [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_007363.5(NONO):c.1408C>T (p.Arg470Ter)
HGVS:
  • NC_000023.11:g.71300068C>T
  • NG_046742.1:g.21877C>T
  • NG_054891.1:g.3794C>T
  • NM_001145408.2:c.1408C>T
  • NM_001145409.2:c.1408C>T
  • NM_001145410.2:c.1141C>T
  • NM_007363.5:c.1408C>TMANE SELECT
  • NP_001138880.1:p.Arg470Ter
  • NP_001138881.1:p.Arg470Ter
  • NP_001138882.1:p.Arg381Ter
  • NP_031389.3:p.Arg470Ter
  • NC_000023.10:g.70519918C>T
  • NM_001145408.1:c.1408C>T
Protein change:
R381*
Molecular consequence:
  • NM_001145408.2:c.1408C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001145409.2:c.1408C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001145410.2:c.1141C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_007363.5:c.1408C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002766145Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Nov 27, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002766145.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Variant summary: NONO c.1408C>T (p.Arg470X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have not been observed at our laboratory or reported in the HGMD database, although a variant located in the vicinity, namely c.1394dup (p.Asn466Lysfs*13) has been reported in a patient with intellectual disability as having been inherited from his healthy mother (Mircsof_2015, cited in HGMD database). The variant was absent in 183163 control chromosomes. To our knowledge, no occurrence of c.1408C>T in individuals affected with Mental Retardation, X-Linked, Syndromic 34 and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.

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

Last Updated: Dec 24, 2022