NM_002185.5(IL7R):c.271_280dup (p.Ile94fs) AND Severe combined immunodeficiency disease

Clinical significance:Likely pathogenic (Last evaluated: Aug 18, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000030060.1

Allele description [Variation Report for NM_002185.5(IL7R):c.271_280dup (p.Ile94fs)]

NM_002185.5(IL7R):c.271_280dup (p.Ile94fs)

Gene:
IL7R:interleukin 7 receptor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs)
HGVS:
  • NC_000005.10:g.35867355_35867364dup
  • NG_009567.1:g.15467_15476dup
  • NM_002185.5:c.271_280dupMANE SELECT
  • NP_002176.2:p.Ile94fs
  • LRG_74t1:c.271_280dup
  • LRG_74:g.15467_15476dup
  • NC_000005.9:g.35867457_35867466dup
  • NM_002185.2:c.271_280dupATATATTTCA
  • NR_120485.3:n.358_367dup
  • p.Ile94AsnfsX38
Protein change:
I94fs
Links:
dbSNP: rs193922640
NCBI 1000 Genomes Browser:
rs193922640
Molecular consequence:
  • NM_002185.5:c.271_280dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_120485.3:n.358_367dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Severe combined immunodeficiency disease (SCID)
Synonyms:
Bubble boy disease
Identifiers:
MONDO: MONDO:0015974; MeSH: D016511; MedGen: C0085110; Human Phenotype Ontology: HP:0004430

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000052715Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
likely pathogenic
(Aug 18, 2011)
germlinecuration, clinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000052715.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
2not providednot providednot providednot providedclinical testingnot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided
2germlineunknownnot providedBloodassert pathogenicitynot providednot providednot provided See 2

Co-occurrences

#ZygosityAllelesNumber of Observations
2SingleHeterozygoteIL7R:c.731C>T, IL7R:c.1066A>G, IL7R:c.412G>A, IL7R:c.197T>C, IL7R:c.82+16G>C, IL7R:c.539A>C1

Last Updated: Jun 14, 2021

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