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rs77375493

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
(G;T) 4 JAK2-V617F variant present
(T;T) 4 JAK2-V617F variant present
ReferenceGRCh37.p5 37.3/135
Chromosome9
Position5073770
GeneJAK2
is asnp
is mentioned by
dbSNPrs77375493
ebirs77375493
HLIrs77375493
Exacrs77375493
Varsomers77375493
Maprs77375493
PheGenIrs77375493
hapmaprs77375493
1000 genomesrs77375493
hgdprs77375493
ensemblrs77375493
gopubmedrs77375493
geneviewrs77375493
scholarrs77375493
googlers77375493
pharmgkbrs77375493
gwascentralrs77375493
openSNPrs77375493
23andMers77375493
23andMe allrs77375493
SNP Nexus

SNPshotrs77375493
SNPdbers77375493
MSV3drs77375493
GWAS Ctlgrs77375493
GMAF0.0
Max Magnitude4

rs77375493, also known as V617F or Val617Phe, is a variant considered to generally be acquired (i.e. somatic) in the Janus kinase 2 JAK2 gene. The wild-type (normal) allele is rs77375493(G), and the (very rare) variant allele is rs77375493(T).

While the predictive medical consequences of having the variant in the absence of symptoms remain uncertain, this variant has been reported to be associated with several myeloproliferative disorders (basically, cancers of the blood), including polycythemia vera, essential thrombocythemia, and idiopathic myelofibrosis, and it appears to be act in a dominant manner. See: OMIM 147796.0001.

A participant in the PGP, John Lauerman, has published an article about his experiences upon finding out that he carried this variant.

OMIM147796
Desc
Variant0001
Relatedalso


ClinVar
Risk rs77375493(A,T;A,T)
Alt rs77375493(A,T;A,T)
Reference rs77375493(G;G)
Significance Other
Disease Thrombocythemia 3 Polycythemia vera Myelofibrosis Acute myeloid leukemia Budd-Chiari syndrome Familial erythrocytosis
Variation info
Gene JAK2
CLNDBN Thrombocythemia 3 Polycythemia vera Myelofibrosis Acute myeloid leukemia Budd-Chiari syndrome, susceptibility to, somatic Familial erythrocytosis, 1
Reversed 0
HGVS NC_000009.11:g.5073770G>A; NC_000009.11:g.5073770G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022629.25, RCV000015769.7, RCV000015770.7, RCV000015771.7, RCV000015772.68, RCV000022627.7, RCV000022628.8,



GET Evidence
JAK2-V617F
aa_change Val617Phe
aa_change_short V617F
impact pathogenic
qualified_impact High clinical importance, pathogenic
overall_frequency 0.000278914
summary This well known variant is associated with myeloproliferative diseases: it is used as a diagnostic, providing supporting evidence in individuals who already have symptoms. It is seen as an acquired (not inherited) mutation, one of an accumulation of changes that leads to the development of these cancer-like diseases. It is possible to see this variant in whole genome data or genotyping from blood-derived DNA -- but it is unclear how to view the presence of the variant in individuals who don't have symptoms of the disease. Data from Nielsen et al. suggests that such carriers are at much higher risk of developing myeloproliferative disease or other blood cancer (with roughly 50% of still-living individuals developing these diseases by around 10 years after initial samples -- but these numbers are _extremely_ uncertain).