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NM_013432.5(TONSL):c.1837G>T (p.Val613Leu) AND TONSL-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 4, 2016
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:
RCV000791264.3

Allele description [Variation Report for NM_013432.5(TONSL):c.1837G>T (p.Val613Leu)]

NM_013432.5(TONSL):c.1837G>T (p.Val613Leu)

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.1837G>T (p.Val613Leu)
HGVS:
  • NC_000008.11:g.144436810C>A
  • NM_013432.5:c.1837G>TMANE SELECT
  • NP_038460.4:p.Val613Leu
  • NC_000008.10:g.145662193C>A
  • NM_013432.4:c.1837G>T
  • NR_109770.1:n.333C>A
Protein change:
V613L
Links:
dbSNP: rs778625348
NCBI 1000 Genomes Browser:
rs778625348
Molecular consequence:
  • NM_013432.5:c.1837G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_109770.1:n.333C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
TONSL-related disorder
Synonyms:
TONSL-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000930548Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Nov 4, 2016) 		paternalclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Egyptianpaternalyes11not providednot providednot providedclinical testing

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

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 Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000930548.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Egyptian1not providednot providedclinical testing PubMed (2)

Description

This individual has been reported in PMID: 30773277 (family 8).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not provided1not provided

Last Updated: Apr 13, 2025