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NM_000215.4(JAK3):c.3254G>A (p.Arg1085Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 15, 2024
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:
RCV004526895.3

Allele description [Variation Report for NM_000215.4(JAK3):c.3254G>A (p.Arg1085Gln)]

NM_000215.4(JAK3):c.3254G>A (p.Arg1085Gln)

Gene:
JAK3:Janus kinase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.11
Genomic location:
Preferred name:
NM_000215.4(JAK3):c.3254G>A (p.Arg1085Gln)
HGVS:
  • NC_000019.10:g.17826864C>T
  • NG_007273.1:g.26128G>A
  • NM_000215.4:c.3254G>AMANE SELECT
  • NP_000206.2:p.Arg1085Gln
  • LRG_77:g.26128G>A
  • NC_000019.9:g.17937673C>T
Protein change:
R1085Q
Links:
dbSNP: rs2094204878
NCBI 1000 Genomes Browser:
rs2094204878
Molecular consequence:
  • NM_000215.4:c.3254G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005040230Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Mar 15, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Combined immunodeficiency due to JAK3 mutation in a child presenting with skin granuloma.

Scarselli A, Di Cesare S, Di Matteo G, De Matteis A, Ariganello P, Romiti ML, Cascioli S, De Vito R, Bertaina A, Locatelli F, Gaspar HB, Aiuti A, Rossi P, Gilmour K, Cancrini C.

J Allergy Clin Immunol. 2016 Mar;137(3):948-51.e5. doi: 10.1016/j.jaci.2015.09.017. Epub 2015 Nov 3. No abstract available.

PubMed [citation]
PMID:
26545580

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005040230.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: JAK3 c.3254G>A (p.Arg1085Gln) results in a conservative amino acid change located in the Protein kinase domain (IPR000719) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 248190 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, c.3254G>A has been not been reported in the literature in individuals affected with Severe Combined Immunodeficiency and no experimental evidence demonstrating an impact on protein function has been reported. The following publication has been ascertained in the context of this evaluation (PMID: 26545580). ClinVar contains an entry for this variant (Variation ID: 1497167). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024