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NM_017831.4(RNF125):c.40C>T (p.Pro14Ser) AND Tenorio syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 7, 2021
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:
RCV002227793.1

Allele description [Variation Report for NM_017831.4(RNF125):c.40C>T (p.Pro14Ser)]

NM_017831.4(RNF125):c.40C>T (p.Pro14Ser)

Genes:
LOC121852963:Sharpr-MPRA regulatory region 13938 [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.40C>T (p.Pro14Ser)
HGVS:
  • NC_000018.10:g.32018903C>T
  • NG_042056.1:g.5422C>T
  • NM_017831.4:c.40C>TMANE SELECT
  • NP_060301.2:p.Pro14Ser
  • NC_000018.9:g.29598866C>T
Protein change:
P14S
Links:
dbSNP: rs757185603
NCBI 1000 Genomes Browser:
rs757185603
Molecular consequence:
  • NM_017831.4:c.40C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002506909New York Genome Center - CSER-NYCKidSeq
criteria provided, single submitter

(NYGC Assertion Criteria 2020)		Uncertain significance
(May 7, 2021) 		inheritedclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknown1not providednot provided1not providedclinical testing

Details of each submission

From New York Genome Center - CSER-NYCKidSeq, SCV002506909.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023