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NM_134261.3(RORA):c.626_627del (p.Pro209fs) AND See cases

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 8, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001420339.2

Allele description [Variation Report for NM_134261.3(RORA):c.626_627del (p.Pro209fs)]

NM_134261.3(RORA):c.626_627del (p.Pro209fs)

Genes:
RORA:RAR related orphan receptor A [Gene - OMIM - HGNC]
RORA-AS1:RORA antisense RNA 1 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
15q22.2
Genomic location:
Preferred name:
NM_134261.3(RORA):c.626_627del (p.Pro209fs)
HGVS:
  • NC_000015.10:g.60511419_60511420del
  • NG_029246.1:g.722884_722885del
  • NM_002943.4:c.701_702del
  • NM_134260.3:c.725_726del
  • NM_134261.3:c.626_627delMANE SELECT
  • NM_134262.3:c.461_462del
  • NP_002934.1:p.Pro234fs
  • NP_599022.1:p.Pro242fs
  • NP_599023.1:p.Pro209fs
  • NP_599024.1:p.Pro154fs
  • NC_000015.9:g.60803618_60803619del
  • NM_002943.3:c.701_702del
  • NM_134261.2:c.626_627del
Protein change:
P154fs
Links:
dbSNP: rs2141319872
NCBI 1000 Genomes Browser:
rs2141319872
Molecular consequence:
  • NM_002943.4:c.701_702del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_134260.3:c.725_726del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_134261.3:c.626_627del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_134262.3:c.461_462del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001622759Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli
criteria provided, single submitter

(Parc Tauli Hospital Assertion Criteria 2021)		Pathogenic
(Apr 26, 2021) 		de novoclinical testing

Citation Link,

SCV002577823Institute of Human Genetics, University Hospital Muenster
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 8, 2021) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing
not providedunknownyes1not 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 Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli, SCV001622759.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

PVS1_very strong;PM2_supporting;PM6_moderate

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

From Institute of Human Genetics, University Hospital Muenster, SCV002577823.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

ACMG categories: PVS1,PM2,PP5

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedbloodnot provided1not providednot providednot provided

Last Updated: Dec 24, 2023