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NM_017831.4(RNF125):c.336G>A (p.Met112Ile) AND Tenorio syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2014
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:
RCV000162241.6

Allele description [Variation Report for NM_017831.4(RNF125):c.336G>A (p.Met112Ile)]

NM_017831.4(RNF125):c.336G>A (p.Met112Ile)

Gene:
RNF125:ring finger protein 125 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_017831.4(RNF125):c.336G>A (p.Met112Ile)
HGVS:
  • NC_000018.10:g.32042196G>A
  • NG_042056.1:g.28715G>A
  • NM_017831.4:c.336G>AMANE SELECT
  • NP_060301.2:p.Met112Ile
  • NC_000018.9:g.29622159G>A
  • NM_017831.3:c.336G>A
  • Q96EQ8:p.Met112Ile
Protein change:
M112I; MET112ILE
Links:
UniProtKB: Q96EQ8#VAR_073353; OMIM: 610432.0001; dbSNP: rs786201014
NCBI 1000 Genomes Browser:
rs786201014
Molecular consequence:
  • NM_017831.4:c.336G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tenorio syndrome (TNORS)
Synonyms:
OVERGROWTH, MACROCEPHALY, AND INTELLECTUAL DISABILITY SYNDROME
Identifiers:
MONDO: MONDO:0014553; MedGen: C4015710; OMIM: 616260

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000212232OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A new overgrowth syndrome is due to mutations in RNF125.

Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, et al.

Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.

PubMed [citation]
PMID:
25196541

Details of each submission

From OMIM, SCV000212232.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 12-year-old Spanish boy with an overgrowth, macrocephaly, and impaired intellectual development syndrome (TNORS; 616260), Tenorio et al. (2014) identified a heterozygous c.336G-A transition in the RNF125 gene, resulting in a met112-to-ile (M112I) substitution. The mutation was also found in his affected mother. It was not found in 600 chromosomes from healthy Spanish controls or in 350 exomes from Spanish controls, and it was not present in the 1000 Genomes Project or Exome Variant Server databases. The proband also had continuous episodes of keratitis, conjunctivitis, limbitis, serous otitis, and pneumonia.

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

Last Updated: Apr 15, 2024