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NM_000451.4(SHOX):c.391G>T (p.Glu131Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 21, 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:
RCV002474038.1

Allele description [Variation Report for NM_000451.4(SHOX):c.391G>T (p.Glu131Ter)]

NM_000451.4(SHOX):c.391G>T (p.Glu131Ter)

Genes:
LOC107652445:meiotic recombination hotspot SHOX [Gene]
SHOX:short stature homeobox [Gene - OMIM - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.33
Genomic location:
Preferred name:
NM_000451.4(SHOX):c.391G>T (p.Glu131Ter)
HGVS:
  • NC_000023.11:g.634731G>T
  • NC_000024.10:g.634731G>T
  • NG_009385.2:g.15388G>T
  • NG_046891.1:g.1779G>T
  • NM_000451.4:c.391G>TMANE SELECT
  • NM_006883.2:c.391G>T
  • NP_000442.1:p.Glu131Ter
  • NP_006874.1:p.Glu131Ter
  • LRG_710t1:c.391G>T
  • LRG_710t2:c.391G>T
  • LRG_710:g.15388G>T
  • LRG_710p1:p.Glu131Ter
  • LRG_710p2:p.Glu131Ter
  • NC_000023.10:g.595466G>T
  • NC_000024.9:g.545466G>T
  • NM_000451.3:c.391G>T
Protein change:
E131*
Molecular consequence:
  • NM_000451.4:c.391G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006883.2:c.391G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002770036GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Dec 21, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002770036.1

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

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 31, 2022