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NM_002185.5(IL7R):c.616C>T (p.Arg206Ter) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 1, 2024
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:
RCV001727317.21

Allele description [Variation Report for NM_002185.5(IL7R):c.616C>T (p.Arg206Ter)]

NM_002185.5(IL7R):c.616C>T (p.Arg206Ter)

Gene:
IL7R:interleukin 7 receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_002185.5(IL7R):c.616C>T (p.Arg206Ter)
Other names:
NM_002185.5(IL7R):c.616C>T; p.Arg206Ter
HGVS:
  • NC_000005.10:g.35873558C>T
  • NG_009567.1:g.21670C>T
  • NM_002185.5:c.616C>TMANE SELECT
  • NP_002176.2:p.Arg206Ter
  • LRG_74:g.21670C>T
  • NC_000005.9:g.35873660C>T
  • NM_002185.2:c.616C>T
Protein change:
R206*
Links:
dbSNP: rs201559094
NCBI 1000 Genomes Browser:
rs201559094
Molecular consequence:
  • NM_002185.5:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
3

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001961873CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Oct 1, 2021) 		germlineclinical testing

Citation Link,

SCV005079889GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jul 1, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001961873.20

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not providednot providednot provided

From GeneDx, SCV005079889.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 15615257, 32868181, 33628209, 20021794, 32482412, 33550906, 27484032, 33519828, 35464432, 28747913, 28436970, 32445296)

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

Last Updated: Oct 20, 2024