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NM_004972.4(JAK2):c.3188G>A (p.Arg1063His) AND not provided

Germline classification:
Benign/Likely benign (5 submissions)
Last evaluated:
Aug 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000892279.20

Allele description [Variation Report for NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)]

NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)

Genes:
JAK2:Janus kinase 2 [Gene - OMIM - HGNC]
INSL6:insulin like 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.1
Genomic location:
Preferred name:
NM_004972.4(JAK2):c.3188G>A (p.Arg1063His)
HGVS:
  • NC_000009.12:g.5126343G>A
  • NG_009904.1:g.146099G>A
  • NG_046969.1:g.64368C>T
  • NM_001322194.2:c.3188G>A
  • NM_001322195.2:c.3188G>A
  • NM_001322196.2:c.3188G>A
  • NM_001322198.2:c.1973G>A
  • NM_001322199.2:c.1973G>A
  • NM_001322204.2:c.2741G>A
  • NM_004972.4:c.3188G>AMANE SELECT
  • NP_001309123.1:p.Arg1063His
  • NP_001309124.1:p.Arg1063His
  • NP_001309125.1:p.Arg1063His
  • NP_001309127.1:p.Arg658His
  • NP_001309128.1:p.Arg658His
  • NP_001309133.1:p.Arg914His
  • NP_004963.1:p.Arg1063His
  • NP_004963.1:p.Arg1063His
  • LRG_612t1:c.3188G>A
  • LRG_612:g.146099G>A
  • LRG_612p1:p.Arg1063His
  • NC_000009.11:g.5126343G>A
  • NM_004972.3:c.3188G>A
  • NR_169763.1:n.3672G>A
  • NR_169764.1:n.3589G>A
  • O60674:p.Arg1063His
Protein change:
R1063H
Links:
UniProtKB: O60674#VAR_041721; dbSNP: rs41316003
NCBI 1000 Genomes Browser:
rs41316003
Molecular consequence:
  • NM_001322194.2:c.3188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322195.2:c.3188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322196.2:c.3188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322198.2:c.1973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322199.2:c.1973G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322204.2:c.2741G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004972.4:c.3188G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_169763.1:n.3672G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_169764.1:n.3589G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
6

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001036142Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Jan 25, 2024)
germlineclinical testing

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

SCV001841101GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Jan 29, 2020)
germlineclinical testing

Citation Link,

SCV004161836CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)
Benign
(Aug 1, 2024)
germlineclinical testing

Citation Link,

SCV004564044ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)
Likely benign
(Mar 6, 2023)
germlineclinical testing

Citation Link,

SCV005273229Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Benigngermlinenot provided

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes6not providednot providednot providednot providedclinical testing, not provided
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001036142.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001841101.1

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

Description

This variant is associated with the following publications: (PMID: 32172663, 30377194, 27389715, 23670291, 31135094, 19643476, 29296762)

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

From CeGaT Center for Human Genetics Tuebingen, SCV004161836.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedclinical testingnot provided

Description

JAK2: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004564044.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Breakthrough Genomics, Breakthrough Genomics, SCV005273229.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024