NM_004972.4(JAK2):c.2571+5A>C AND multiple conditions

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000709880.1

Allele description [Variation Report for NM_004972.4(JAK2):c.2571+5A>C]

NM_004972.4(JAK2):c.2571+5A>C

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.2571+5A>C
HGVS:
  • NC_000009.12:g.5081866A>C
  • NG_009904.1:g.101622A>C
  • NG_046969.1:g.108845T>G
  • NM_001322194.2:c.2571+5A>C
  • NM_001322195.2:c.2571+5A>C
  • NM_001322196.2:c.2571+5A>C
  • NM_001322198.2:c.1356+5A>C
  • NM_001322199.2:c.1356+5A>C
  • NM_001322204.2:c.2124+5A>C
  • NM_004972.3:c.2571+5A>C
  • NM_004972.4:c.2571+5A>CMANE SELECT
  • LRG_612t1:c.2571+5A>C
  • LRG_612:g.101622A>C
  • NC_000009.11:g.5081866A>C
  • NC_000009.11:g.5081866A>C
Links:
dbSNP: rs775085241
NCBI 1000 Genomes Browser:
rs775085241
Molecular consequence:
  • NM_001322194.2:c.2571+5A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322195.2:c.2571+5A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322196.2:c.2571+5A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322198.2:c.1356+5A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322199.2:c.1356+5A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001322204.2:c.2124+5A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004972.3:c.2571+5A>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004972.4:c.2571+5A>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Polycythemia vera (PV)
Synonyms:
Polycythemia rubra vera; Polycythemia vera, somatic
Identifiers:
MONDO: MONDO:0009891; MeSH: D011087; MedGen: C0032463; Orphanet: 729; OMIM: 263300
Name:
Acute myeloid leukemia (AML)
Synonyms:
Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808
Name:
Thrombocythemia 3 (THCYT3)
Synonyms:
THROMBOCYTOSIS 3; THROMBOCYTHEMIA 3, SOMATIC
Identifiers:
MONDO: MONDO:0013794; MedGen: C3281125; OMIM: 614521

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000840221GenomeConnect, ClinGenno assertion providednot providedunknownphenotyping only

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840221.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Oct 24, 2021

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