NM_002185.5(IL7R):c.265C>T (p.Gln89Ter) AND Histiocytic medullary reticulosis

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 3, 2019
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:: RCV000991308.2

Allele description [Variation Report for NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)]

NM_002185.5(IL7R):c.265C>T (p.Gln89Ter)

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.265C>T (p.Gln89Ter)

Other names:

NM_002185.5(IL7R):c.265C>T; p.Gln89Ter

HGVS:

NC_000005.10:g.35867349C>T
NG_009567.1:g.15461C>T
NM_002185.5:c.265C>TMANE SELECT
NP_002176.2:p.Gln89Ter
LRG_74:g.15461C>T
NC_000005.9:g.35867451C>T
NC_000005.9:g.35867451C>T
NM_002185.3:c.265C>T
NR_120485.3:n.352C>T
p.Gln89X

Protein change:

Q89*

Links:

dbSNP: rs141698985

NCBI 1000 Genomes Browser:

rs141698985

Molecular consequence:

NR_120485.3:n.352C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_002185.5:c.265C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Name:: Histiocytic medullary reticulosis
Synonyms:: Omenn syndrome; Reticuloendotheliosis familial with eosinophilia; Severe combined immunodeficiency with hypereosinophilia
Identifiers:: MONDO: MONDO:0011338; MedGen: C2700553; Orphanet: 39041; OMIM: 603554

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001142712	Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 3, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001142712

Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 3, 2019)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical 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 Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota, SCV001142712.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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