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NM_134261.3(RORA):c.802G>A (p.Val268Met) AND Intellectual developmental disorder with or without epilepsy or cerebellar ataxia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 22, 2020
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:
RCV001199955.2

Allele description [Variation Report for NM_134261.3(RORA):c.802G>A (p.Val268Met)]

NM_134261.3(RORA):c.802G>A (p.Val268Met)

Genes:
RORA:RAR related orphan receptor A [Gene - OMIM - HGNC]
RORA-AS1:RORA antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.2
Genomic location:
Preferred name:
NM_134261.3(RORA):c.802G>A (p.Val268Met)
HGVS:
  • NC_000015.10:g.60511244C>T
  • NG_029246.1:g.723060G>A
  • NM_002943.4:c.877G>A
  • NM_134260.3:c.901G>A
  • NM_134261.3:c.802G>AMANE SELECT
  • NM_134262.3:c.637G>A
  • NP_002934.1:p.Val293Met
  • NP_599022.1:p.Val301Met
  • NP_599023.1:p.Val268Met
  • NP_599024.1:p.Val213Met
  • NC_000015.9:g.60803443C>T
  • NM_134261.2:c.802G>A
Protein change:
V213M
Links:
dbSNP: rs771655652
NCBI 1000 Genomes Browser:
rs771655652
Molecular consequence:
  • NM_002943.4:c.877G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_134260.3:c.901G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_134261.3:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_134262.3:c.637G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia
Identifiers:
MONDO: MONDO:0060745; MedGen: C4748041; OMIM: 618060

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001251970Laboratory of Human Genetics, Universidade de São Paulo
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 22, 2020) 		paternalresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes21not providednot providednot providedresearch

Details of each submission

From Laboratory of Human Genetics, Universidade de São Paulo, SCV001251970.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearchnot provided

Description

VUS in the RORA gene (NM_134260.2:c.901G>A; p.Val301Met) in a boy with Autism Spectrum Disorder, microcephaly, speech impairment, and learning disabilities.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided2not provided1not provided

Last Updated: Jun 23, 2024