NM_000215.4(JAK3):c.1108G>A (p.Glu370Lys) AND Neoplasm

Germline classification:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: Uncertain significance (1 submission)
Last evaluated:: Jul 31, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Record status:: current
Accession:: RCV004671344.1

Allele description [Variation Report for NM_000215.4(JAK3):c.1108G>A (p.Glu370Lys)]

NM_000215.4(JAK3):c.1108G>A (p.Glu370Lys)

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.1108G>A (p.Glu370Lys)

HGVS:

NC_000019.10:g.17841423C>T
NG_007273.1:g.11569G>A
NM_000215.4:c.1108G>AMANE SELECT
NP_000206.2:p.Glu370Lys
LRG_77t1:c.1108G>A
LRG_77:g.11569G>A
NC_000019.9:g.17952232C>T
NM_000215.3:c.1108G>A

Protein change:

E370K

Links:

dbSNP: rs200631515

NCBI 1000 Genomes Browser:

rs200631515

Molecular consequence:

NM_000215.4:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neoplasm
Synonyms:: Neoplasms; Neoplasm (disease)
Identifiers:: MONDO: MONDO:0005070; MeSH: D009369; MedGen: C0027651; Human Phenotype Ontology: HP:0002664

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005094006	Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	criteria provided, single submitter (ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022)	Uncertain significance (Jul 31, 2024)	somatic	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

SCV005094006

Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

criteria provided, single submitter

(ClinGen/CGC/VICC Guidelines for Oncogenicity, 2022)

Uncertain significance
(Jul 31, 2024)

somatic

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

Citations

PubMed

Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).

Horak P, Griffith M, Danos AM, Pitel BA, Madhavan S, Liu X, Chow C, Williams H, Carmody L, Barrow-Laing L, Rieke D, Kreutzfeldt S, Stenzinger A, Tamborero D, Benary M, Rajagopal PS, Ida CM, Lesmana H, Satgunaseelan L, Merker JD, Tolstorukov MY, Campregher PV, et al.

Genet Med. 2022 May;24(5):986-998. doi: 10.1016/j.gim.2022.01.001. Epub 2022 Jan 29. Erratum in: Genet Med. 2022 Sep;24(9):1991. doi: 10.1016/j.gim.2022.07.001.

PubMed [citation]

PMID:: 35101336
PMCID:: PMC9081216

Details of each submission

From Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, SCV005094006.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine