NM_002185.5(IL7R):c.361dup (p.Ile121fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 23, 2021
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:: RCV001558274.2

Allele description [Variation Report for NM_002185.5(IL7R):c.361dup (p.Ile121fs)]

NM_002185.5(IL7R):c.361dup (p.Ile121fs)

Gene:

IL7R:interleukin 7 receptor [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

5p13.2

Genomic location:

Preferred name:

NM_002185.5(IL7R):c.361dup (p.Ile121fs)

Other names:

NM_002185.5(IL7R):c.361dup; p.Ile121fs

HGVS:

NC_000005.10:g.35867445dup
NG_009567.1:g.15557dup
NM_002185.5:c.361dupMANE SELECT
NP_002176.2:p.Ile121fs
LRG_74t1:c.361dup
LRG_74:g.15557dup
NC_000005.9:g.35867540_35867541insA
NC_000005.9:g.35867547dup
NM_002185.2:c.361dupA
NM_002185.3:c.361dupA
NR_120485.3:n.448dup

Protein change:

I121fs

Links:

dbSNP: rs869312857

NCBI 1000 Genomes Browser:

rs869312857

Molecular consequence:

NM_002185.5:c.361dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_120485.3:n.448dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001780186	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Apr 23, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001780186

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Apr 23, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001780186.1

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

Description

Frameshift 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: 25046553, 27577878)

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

Last Updated: Sep 29, 2024

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