U.S. flag

An official website of the United States government

NM_013432.5(TONSL):c.2137C>T (p.Gln713Ter) AND Skeletal dysplaisia with extra-skeletal manifestations

Germline classification:
Likely 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:
RCV001261726.1

Allele description [Variation Report for NM_013432.5(TONSL):c.2137C>T (p.Gln713Ter)]

NM_013432.5(TONSL):c.2137C>T (p.Gln713Ter)

Genes:
TONSL-AS1:TONSL antisense RNA 1 [Gene - HGNC]
TONSL:tonsoku like, DNA repair protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_013432.5(TONSL):c.2137C>T (p.Gln713Ter)
HGVS:
  • NC_000008.11:g.144436296G>A
  • NM_013432.5:c.2137C>TMANE SELECT
  • NP_038460.4:p.Gln713Ter
  • NC_000008.10:g.145661679G>A
  • NM_013432.4:c.2137C>T
Protein change:
Q713*
Links:
dbSNP: rs1823455124
NCBI 1000 Genomes Browser:
rs1823455124
Molecular consequence:
  • NM_013432.5:c.2137C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Skeletal dysplaisia with extra-skeletal manifestations
Identifiers:

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
SCV001439042University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenicinheritedresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, et al.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

PubMed [citation]
PMID:
30773277
PMCID:
PMC6408318

Details of each submission

From University of Washington Center for Mendelian Genomics, University of Washington, SCV001439042.1

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

Last Updated: Apr 23, 2022