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NM_006914.4(RORB):c.853G>A (p.Glu285Lys) AND Epilepsy, idiopathic generalized, susceptibility to, 15

Germline classification:
Uncertain significance (1 submission)
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:
RCV001733819.1

Allele description [Variation Report for NM_006914.4(RORB):c.853G>A (p.Glu285Lys)]

NM_006914.4(RORB):c.853G>A (p.Glu285Lys)

Gene:
RORB:RAR related orphan receptor B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q21.13
Genomic location:
Preferred name:
NM_006914.4(RORB):c.853G>A (p.Glu285Lys)
HGVS:
  • NC_000009.12:g.74662567G>A
  • NG_046926.2:g.170232G>A
  • NM_001365023.1:c.886G>A
  • NM_006914.4:c.853G>AMANE SELECT
  • NP_001351952.1:p.Glu296Lys
  • NP_008845.2:p.Glu285Lys
  • NC_000009.11:g.77277483G>A
  • NM_006914.3:c.853G>A
Protein change:
E285K
Links:
dbSNP: rs1563967871
NCBI 1000 Genomes Browser:
rs1563967871
Molecular consequence:
  • NM_001365023.1:c.886G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006914.4:c.853G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Epilepsy, idiopathic generalized, susceptibility to, 15 (EIG15)
Identifiers:
MONDO: MONDO:0032699; MedGen: C5193050; OMIM: 618357

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001984785Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego - CSER-NYCKidSeq
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significancegermlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego - CSER-NYCKidSeq, SCV001984785.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the gnomAD population database and thus is presumed to be rare. In silico tools used to predict the effect of this variant on protein function yield discordant results. The RORB gene is highly constrained (Z-score= 3.08 and pLI = 1), which suggests it is intolerant to variation; however, mechanism of disease has not yet been determined. Based on the available evidence, the c.853G>A (p.Glu285Lys) variant is classified as Variant of Uncertain Significance.

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

Last Updated: Dec 24, 2023