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NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 23, 2018
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:
RCV000256080.4

Allele description [Variation Report for NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)]

NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)

Gene:
TMLHE:trimethyllysine hydroxylase, epsilon [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)
HGVS:
  • NC_000023.11:g.155524585G>A
  • NG_021318.1:g.93377C>T
  • NM_001184797.2:c.229C>T
  • NM_018196.4:c.229C>TMANE SELECT
  • NP_001171726.1:p.Arg77Ter
  • NP_060666.1:p.Arg77Ter
  • NC_000023.10:g.154754246G>A
  • NM_018196.3:c.229C>T
Protein change:
R77*; ARG77TER
Links:
OMIM: 300777.0002; dbSNP: rs781889971
NCBI 1000 Genomes Browser:
rs781889971
Molecular consequence:
  • NM_001184797.2:c.229C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_018196.4:c.229C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000322111GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Uncertain significance
(Oct 23, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000322111.6

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

Description

The R77X variant in the TMLHE gene has been reported previously in two male siblings with autism and moderate intellectual disability who had elevated 6-N-trimethyllysine, the TMLHE substrate; however, these individuals harbored additional variants in other x-linked genes that may also have contributed to the autism and intellectual disability (Nava et al., 2012). This variant may cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R77X variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret R77X as a variant of uncertain significance.

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

Last Updated: Sep 30, 2023