NM_000215.4(JAK3):c.527_528del (p.Glu176fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 15, 2016
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:: RCV000483936.1

Allele description [Variation Report for NM_000215.4(JAK3):c.527_528del (p.Glu176fs)]

NM_000215.4(JAK3):c.527_528del (p.Glu176fs)

Gene:

JAK3:Janus kinase 3 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

19p13.11

Genomic location:

Preferred name:

NM_000215.4(JAK3):c.527_528del (p.Glu176fs)

HGVS:

NC_000019.10:g.17843066TC[1]
NG_007273.1:g.9924AG[1]
NM_000215.4:c.527_528delMANE SELECT
NP_000206.2:p.Glu176fs
LRG_77:g.9924AG[1]
NC_000019.9:g.17953875TC[1]
NM_000215.3:c.527_528delAG

Protein change:

E176fs

Links:

dbSNP: rs1064795657

NCBI 1000 Genomes Browser:

rs1064795657

Molecular consequence:

NM_000215.4:c.527_528del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000571663	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Sep 15, 2016)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000571663

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Sep 15, 2016)

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, SCV000571663.3

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

Description

A novel c.527_528delAG variant was identified in the JAK3 gene. It has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.527_528delAG variant causes a frameshift starting with codon Glutamic acid 176, changes this amino acid to an Alanine residue and creates a premature Stop codon at position 100 of the new reading frame, denoted p.Glu176AlafsX100. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Additionally, the variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, this variant is likely pathogenic.

#	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: Apr 23, 2022

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