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NM_000215.4(JAK3):c.268G>A (p.Val90Met) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 30, 2022
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:
RCV003096015.2

Allele description [Variation Report for NM_000215.4(JAK3):c.268G>A (p.Val90Met)]

NM_000215.4(JAK3):c.268G>A (p.Val90Met)

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.268G>A (p.Val90Met)
HGVS:
  • NC_000019.10:g.17843817C>T
  • NG_007273.1:g.9175G>A
  • NM_000215.4:c.268G>AMANE SELECT
  • NP_000206.2:p.Val90Met
  • LRG_77t1:c.268G>A
  • LRG_77:g.9175G>A
  • NC_000019.9:g.17954626C>T
  • NM_000215.3:c.268G>A
Protein change:
V90M
Links:
dbSNP: rs1016346013
NCBI 1000 Genomes Browser:
rs1016346013
Molecular consequence:
  • NM_000215.4:c.268G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003756589Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 30, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003756589.2

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

Description

The c.268G>A (p.V90M) alteration is located in exon 3 (coding exon 2) of the JAK3 gene. This alteration results from a G to A substitution at nucleotide position 268, causing the valine (V) at amino acid position 90 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024