chr3:38182641:T>C Detail (hg19) (MYD88)

Information

Genome

Assembly Position
hg19 chr3:38,182,641-38,182,641
hg38 chr3:38,141,150-38,141,150 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001172567.1:c.620T>C NP_001166038.1:p.Leu207Pro
Ensemble ENST00000417037.8:c.620T>C ENST00000417037.8:p.Leu207Pro
ENST00000421516.3:c.779T>C ENST00000421516.3:p.Leu260Pro
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 4
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 602170 OMIM
HGNC 7562 HGNC
Ensembl ENSG00000172936 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5416224 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided appendix not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic Lymphoplasmacytic lymphoma germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2012-12-06 no assertion criteria provided Macroglobulinemia, Waldenstrom, somatic somatic Detail
Likely pathogenic 2014-12-26 no assertion criteria provided lymphoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided B-cell chronic lymphocytic leukemia somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided non-Hodgkin lymphoma somatic Detail
Uncertain significance 2023-06-03 criteria provided, single submitter Pyogenic bacterial infections due to MyD88 deficiency germline Detail
Likely pathogenic 2023-07-25 no assertion criteria provided Malignant lymphoma, large B-cell, diffuse somatic Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
chronic lymphocytic leukemia B Prognostic Supports Better Outcome Somatic 2 24943832 Detail
Waldenström's Macroglobulinemia IMG-2005-5,IRAK-1/4 Inhibitor D Predictive Supports Sensitivity/Response Somatic 1 22931316 Detail
Waldenström's Macroglobulinemia Ibrutinib B Predictive Supports Sensitivity/Response Somatic 4 25853747 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.129 Waldenstrom Macroglobulinemia CXCR4 WHIM-like frameshift and nonsense mutations promote ibrutinib resistance b... BeFree 25371371 Detail
<0.001 Bing-Neel syndrome MYD88 L265P mutation contributes to the diagnosis of Bing Neel syndrome. BeFree 25160558 Detail
0.003 Malignant lymphoma - lymphoplasmacytic MYD88 L265P is a commonly recurring mutation in patients with Waldenström's macr... BeFree 22931316 Detail
0.129 Waldenstrom Macroglobulinemia This study confirms the strong association of the MYD88 L265P mutation with LPL,... BeFree 26230596 Detail
<0.001 Lymphocytosis Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences... BeFree 23446312 Detail
<0.001 Waldenstrom Macroglobulinemia Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 ... BeFree 23321251 Detail
<0.001 Lymphocytosis Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences... BeFree 23446312 Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 ... BeFree 23321251 Detail
0.122 diffuse large B-cell lymphoma Myd-88 L265P constitutive activating mutations are present in at least some case... BeFree 25768255 Detail
0.129 Waldenstrom Macroglobulinemia Although not entirely specific, MYD88 L265P is a useful adjunct for bone marrow ... BeFree 23955458 Detail
<0.001 Paraproteinemias SMZL cases positive for MYD88 L265P were also associated with monoclonal IgM par... BeFree 25723115 Detail
0.006 Waldenstrom Macroglobulinemia MYD88 L265P and CXCR4 WHIM mutations are common in WM and support the growth and... BeFree 25212891 Detail
0.129 Waldenstrom Macroglobulinemia MYD88 L265P somatic mutation in Waldenström's macroglobulinemia. BeFree 22931316 Detail
<0.001 WHIM syndrome Fewer patients with MYD88(L265P) and CXCR4(WHIM/FS or NS) vs MYD88(L265P)CXCR4(W... BeFree 24553177 Detail
<0.001 Waldenstrom Macroglobulinemia Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 ... BeFree 23321251 Detail
<0.001 Waldenstrom Macroglobulinemia The results establish BTK as a downstream target of MYD88 L265P signaling, and p... BeFree 23836557 Detail
0.129 Waldenstrom Macroglobulinemia MYD88 L265P mutations are correlated with 6q deletion in Korean patients with Wa... BeFree 24895570 Detail
0.003 Malignant lymphoma - lymphoplasmacytic Although not entirely specific, MYD88 L265P is a useful adjunct for bone marrow ... BeFree 23955458 Detail
0.002 Marginal Zone B-Cell Lymphoma The most distinguishing features of LPL with respect to MZL were focal paratrabe... BeFree 25972321 Detail
0.002 Mucosa-Associated Lymphoid Tissue Lymphoma Thus, pyrosequencing for the MYD88 L265P mutation demonstrates a high clinical s... BeFree 26230596 Detail
0.006 lymphoma Thus, MYD88 may be crucial for lymphoma progression, independent of MYD88 L265P ... BeFree 23380077 Detail
<0.001 Activated B-Cell-Like Diffuse Large B-Cell Lymphoma Contrary to most cutaneous lymphomas that rarely harbor primary genetic alterati... BeFree 24030746 Detail
0.001 B-Cell Lymphomas In conclusion the detection of MYD88 L265P mutation in FFPE samples is reliable ... BeFree 25819228 Detail
0.122 diffuse large B-cell lymphoma Heterozygous MYD88 L265P mutations were identified in 11 (9.2%) DLBCL cases, all... BeFree 23178471 Detail
<0.001 Myelokathexis Validated somatic mutations occurring in &gt;10% of patients included MYD88, CXC... BeFree 24366360 Detail
0.001 B-Cell Lymphomas Although not entirely specific, MYD88 L265P is a useful adjunct for bone marrow ... BeFree 23955458 Detail
0.002 Lymphoproliferative Disorders This has fueled major interest in the field and as newer evidence accumulates, i... BeFree 24573383 Detail
0.003 chronic lymphocytic leukemia Recurrent L265P mutation of myeloid differentiation primary response gene 88 (MY... BeFree 23178471 Detail
0.002 Marginal Zone B-Cell Lymphoma MYD88 (L265P) somatic mutation in marginal zone B-cell lymphoma. BeFree 25723115 Detail
0.002 Marginal Zone B-Cell Lymphoma Thus, pyrosequencing for the MYD88 L265P mutation demonstrates a high clinical s... BeFree 26230596 Detail
0.006 lymphoma IGHV gene features and MYD88 L265P mutation separate the three marginal zone lym... BeFree 22944768 Detail
<0.001 Low grade B-cell lymphoma Significance of MYD88 L265P Mutation Status in the Subclassification of Low-Grad... BeFree 26230596 Detail
0.129 Waldenstrom Macroglobulinemia MYD88 L265P in Waldenström macroglobulinemia, immunoglobulin M monoclonal gammop... BeFree 23321251 Detail
0.006 Waldenstrom Macroglobulinemia CXCR4 WHIM-like frameshift and nonsense mutations promote ibrutinib resistance b... BeFree 25371371 Detail
<0.001 Splenic Marginal Zone B-Cell Lymphoma Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 ... BeFree 23321251 Detail
0.129 Waldenstrom Macroglobulinemia Detection of MYD88 L265P mutations in formalin-fixed and decalcified BM biopsies... BeFree 24842316 Detail
<0.001 Lymphocytosis Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences... BeFree 23446312 Detail
<0.001 Myelokathexis Validated somatic mutations occurring in &gt;10% of patients included MYD88, CXC... BeFree 24366360 Detail
0.002 Marginal Zone B-Cell Lymphoma MYD88 L265P was found in 49/51 (96%) LPL cases and in 1/13 (7·6%) MZL (splenic t... BeFree 25819228 Detail
0.006 lymphoma MyD-88 L265P mutations are present in some cases of vitreoretinal lymphoma. BeFree 25768255 Detail
<0.001 Malignant lymphoma - lymphoplasmacytic The absence of plasmacytoid cells, the presence of plasma cells predominantly ou... BeFree 24143001 Detail
0.002 Marginal Zone B-Cell Lymphoma IGHV gene features and MYD88 L265P mutation separate the three marginal zone lym... BeFree 22944768 Detail
0.450 WHIM syndrome Fewer patients with MYD88(L265P) and CXCR4(WHIM/FS or NS) vs MYD88(L265P)CXCR4(W... BeFree 24553177 Detail
0.001 multiple myeloma Although not entirely specific, MYD88 L265P is a useful adjunct for bone marrow ... BeFree 23955458 Detail
0.003 chronic lymphocytic leukemia Thus, pyrosequencing for the MYD88 L265P mutation demonstrates a high clinical s... BeFree 26230596 Detail
<0.001 Lymphocytosis Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences... BeFree 23446312 Detail
<0.001 Hyperviscosity syndrome We genotyped lymphoplasmacytic cells from 175 WM patients and observed significa... BeFree 24553177 Detail
0.002 Mucosa-Associated Lymphoid Tissue Lymphoma MYD88 L265P was found in 49/51 (96%) LPL cases and in 1/13 (7·6%) MZL (splenic t... BeFree 25819228 Detail
<0.001 Lymphoproliferative Disorders The absence of plasmacytoid cells, the presence of plasma cells predominantly ou... BeFree 24143001 Detail
0.003 Malignant lymphoma - lymphoplasmacytic The absence of plasmacytoid cells, the presence of plasma cells predominantly ou... BeFree 24143001 Detail
0.002 Mucosa-Associated Lymphoid Tissue Lymphoma MYD88 (L265P) somatic mutation in marginal zone B-cell lymphoma. BeFree 25723115 Detail
0.006 lymphoma Although the absence of the MyD88 L265P somatic mutation in our SS cohort does n... BeFree 24153350 Detail
0.001 multiple myeloma L265P mutation of the MYD88 gene is frequent in Waldenström's macroglobulinemia ... BeFree 24224040 Detail
<0.001 Waldenstrom Macroglobulinemia The absence of plasmacytoid cells, the presence of plasma cells predominantly ou... BeFree 24143001 Detail
0.002 Lymphoproliferative Disorders An oncogenic gain-of-function mutation (L265P) in the human MYD88 gene has been ... BeFree 24842316 Detail
0.001 multiple myeloma Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 ... BeFree 23321251 Detail
0.002 Mucosa-Associated Lymphoid Tissue Lymphoma The most distinguishing features of LPL with respect to MZL were focal paratrabe... BeFree 25972321 Detail
<0.001 Splenic Marginal Zone B-Cell Lymphoma After reclassification, MYD88 L265P was detected in 13/86 (15%) SMZL and in 19/2... BeFree 25723115 Detail
<0.001 Activated B-Cell-Like Diffuse Large B-Cell Lymphoma In a population-based patient cohort, SPIBhigh/BATFlow-ABC-DLBCL is enriched for... BeFree 24875472 Detail
<0.001 Splenic Marginal Zone B-Cell Lymphoma MYD88 (L265P) was detected in 58/58 (100%) patients with WM, 36/77 (47%) with Ig... BeFree 23355535 Detail
<0.001 Leukemogenesis In order to evaluate whether the presence of the recently described MYD88 L265P ... BeFree 24153350 Detail
0.002 Lymphoproliferative Disorders The absence of plasmacytoid cells, the presence of plasma cells predominantly ou... BeFree 24143001 Detail
0.002 Waldenstrom Macroglobulinemia IGHV gene features and MYD88 L265P mutation separate the three marginal zone lym... BeFree 22944768 Detail
0.129 Waldenstrom Macroglobulinemia Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Wa... BeFree 23355535 Detail
0.129 Waldenstrom Macroglobulinemia A new era for Waldenstrom macroglobulinemia: MYD88 L265P. BeFree 23723443 Detail
0.001 multiple myeloma MYD88 L265P was absent in paired normal tissue samples from patients with Walden... BeFree 22931316 Detail
0.129 Waldenstrom Macroglobulinemia L265P mutation of the MYD88 gene is frequent in Waldenström's macroglobulinemia ... BeFree 24224040 Detail
0.002 Myelokathexis Validated somatic mutations occurring in &gt;10% of patients included MYD88, CXC... BeFree 24366360 Detail
0.002 Lymphoproliferative Disorders To sum up, ASO-RQ-PCR is an inexpensive, robust, and optimized method for the de... BeFree 24992174 Detail
0.002 Lymphoproliferative Disorders MYD88 L265P somatic mutation: its usefulness in the differential diagnosis of bo... BeFree 23955458 Detail
<0.001 Monoclonal Gammapathies MYD88 L265P is highly prevalent in Waldenstrom's Macroglobulinemia (WM) and IgM ... BeFree 24509637 Detail
<0.001 Cutaneous lymphoma Contrary to most cutaneous lymphomas that rarely harbor primary genetic alterati... BeFree 24030746 Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance Detection of MYD88 L265P in peripheral blood of patients with Waldenström's Macr... BeFree 24509637 Detail
0.003 Malignant lymphoma - lymphoplasmacytic Detection of MYD88 L265P mutations in formalin-fixed and decalcified BM biopsies... BeFree 24842316 Detail
0.129 Waldenstrom Macroglobulinemia MYD88 L265P mutation in Waldenstrom macroglobulinemia. BeFree 23532735 Detail
<0.001 Splenic Marginal Zone B-Cell Lymphoma Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 ... BeFree 23321251 Detail
0.001 Waldenstrom Macroglobulinemia Clonotypic analysis of immunoglobulin heavy chain sequences in patients with Wal... BeFree 25197661 Detail
0.122 diffuse large B-cell lymphoma MYD88 expression and L265P mutation in diffuse large B-cell lymphoma. BeFree 23380077 Detail
0.006 lymphoma MYD88 L265P mutation has been reported in ∼90% of Waldenström's Macroglobulinemi... BeFree 24992174 Detail
0.129 Waldenstrom Macroglobulinemia The absence of plasmacytoid cells, the presence of plasma cells predominantly ou... BeFree 24143001 Detail
0.002 Mucosa-Associated Lymphoid Tissue Lymphoma IGHV gene features and MYD88 L265P mutation separate the three marginal zone lym... BeFree 22944768 Detail
0.006 Waldenstrom Macroglobulinemia MYD88(L265P) and CXCR4(WHIM) mutations are highly prevalent in Waldenström's mac... BeFree 25853747 Detail
0.003 chronic lymphocytic leukemia MYD88 L265P was found in 49/51 (96%) LPL cases and in 1/13 (7·6%) MZL (splenic t... BeFree 25819228 Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 ... BeFree 23321251 Detail
0.023 lymphoma IGHV gene features and MYD88 L265P mutation separate the three marginal zone lym... BeFree 22944768 Detail
<0.001 Waldenstrom Macroglobulinemia A mutation in MYD88 (L265P) supports the survival of lymphoplasmacytic cells by ... BeFree 23836557 Detail
<0.001 leukemia Significance of MYD88 L265P Mutation Status in the Subclassification of Low-Grad... BeFree 26230596 Detail
0.001 B-Cell Lymphomas Contrary to most cutaneous lymphomas that rarely harbor primary genetic alterati... BeFree 24030746 Detail
<0.001 Splenic Marginal Zone B-Cell Lymphoma Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 ... BeFree 23321251 Detail
0.129 Waldenstrom Macroglobulinemia The MYD88 L265P mutation has been identified in the vast majority of patients wi... BeFree 25160558 Detail
0.129 Waldenstrom Macroglobulinemia IGHV gene features and MYD88 L265P mutation separate the three marginal zone lym... BeFree 22944768 Detail
0.006 Waldenstrom Macroglobulinemia Direct inhibition of MYD88(L265P) signalling overcomes CXCL12 triggered survival... BeFree 25371371 Detail
<0.001 Hyperviscosity syndrome We genotyped lymphoplasmacytic cells from 175 WM patients and observed significa... BeFree 24553177 Detail
0.003 Malignant lymphoma - lymphoplasmacytic This study confirms the strong association of the MYD88 L265P mutation with LPL,... BeFree 26230596 Detail
0.129 Waldenstrom Macroglobulinemia Clonotypic analysis of immunoglobulin heavy chain sequences in patients with Wal... BeFree 25197661 Detail
0.129 Waldenstrom Macroglobulinemia A mutation in MYD88 (L265P) supports the survival of lymphoplasmacytic cells by ... BeFree 23836557 Detail
<0.001 Hematologic Neoplasms Although the absence of the MyD88 L265P somatic mutation in our SS cohort does n... BeFree 24153350 Detail
0.129 Waldenstrom Macroglobulinemia MYD88 L265P is a marker highly characteristic of, but not restricted to, Waldens... BeFree 23446312 Detail
0.003 chronic lymphocytic leukemia MYD88 L265P mutation has been reported in ∼90% of Waldenström's Macroglobulinemi... BeFree 24992174 Detail
0.129 Waldenstrom Macroglobulinemia Detection of MYD88 L265P in peripheral blood of patients with Waldenström's Macr... BeFree 24509637 Detail
0.002 Lymphoproliferative Disorders We evaluated the MYD88 L265P mutation in Waldenström's macroglobulinemia (WM) an... BeFree 23446312 Detail
0.129 Waldenstrom Macroglobulinemia Beyond the discovery of the myeloid differentiation primary response gene 88 (MY... BeFree 23473949 Detail
<0.001 Monoclonal Gammopathy of Undetermined Significance Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 ... BeFree 23321251 Detail
0.003 T-cell large granular lymphocyte leukemia They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... BeFree 24689848 Detail
0.121 Angioimmunoblastic Lymphadenopathy They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... BeFree 24689848 Detail
0.132 hairy cell leukemia They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... BeFree 24689848 Detail
<0.001 T-cell large granular lymphocyte leukemia They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... BeFree 24689848 Detail
0.121 peripheral T-cell lymphoma They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... BeFree 24689848 Detail
0.129 Waldenstrom Macroglobulinemia They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mut... BeFree 24689848 Detail
Annotation

Annotations

DescrptionSourceLinks
MYD88 mutations were identified in 24 of 1080 screened CLLs. They were exclusively seen in instance... CIViC Evidence Detail
In a study of 30 patients with Waldenström’s macroglobulinemia, 87% had MYD88(L265P) mutations. Wal... CIViC Evidence Detail
A prospective study of ibrutinib in 63 symptomatic patients with Waldenström's macroglobulinemia who... CIViC Evidence Detail
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) AND Macroglobulinemia, Waldenstrom, somatic ClinVar Detail
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) AND Lymphoma ClinVar Detail
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) AND Multiple myeloma ClinVar Detail
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) AND Non-Hodgkin lymphoma ClinVar Detail
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) AND Pyogenic bacterial infections due to MyD88 deficiency ClinVar Detail
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) AND Malignant lymphoma, large B-cell, diffuse ClinVar Detail
CXCR4 WHIM-like frameshift and nonsense mutations promote ibrutinib resistance but do not supplant M... DisGeNET Detail
MYD88 L265P mutation contributes to the diagnosis of Bing Neel syndrome. DisGeNET Detail
MYD88 L265P is a commonly recurring mutation in patients with Waldenström's macroglobulinemia that c... DisGeNET Detail
This study confirms the strong association of the MYD88 L265P mutation with LPL, as well as the exis... DisGeNET Detail
Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences in clinical and bio... DisGeNET Detail
Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patie... DisGeNET Detail
Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences in clinical and bio... DisGeNET Detail
Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patie... DisGeNET Detail
Myd-88 L265P constitutive activating mutations are present in at least some cases of the diffuse lar... DisGeNET Detail
Although not entirely specific, MYD88 L265P is a useful adjunct for bone marrow diagnosis in separat... DisGeNET Detail
SMZL cases positive for MYD88 L265P were also associated with monoclonal IgM paraproteinemia (4/13 c... DisGeNET Detail
MYD88 L265P and CXCR4 WHIM mutations are common in WM and support the growth and survival of WM cell... DisGeNET Detail
MYD88 L265P somatic mutation in Waldenström's macroglobulinemia. DisGeNET Detail
Fewer patients with MYD88(L265P) and CXCR4(WHIM/FS or NS) vs MYD88(L265P)CXCR4(WT) presented with ad... DisGeNET Detail
Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patie... DisGeNET Detail
The results establish BTK as a downstream target of MYD88 L265P signaling, and provide a framework f... DisGeNET Detail
MYD88 L265P mutations are correlated with 6q deletion in Korean patients with Waldenström macroglobu... DisGeNET Detail
Although not entirely specific, MYD88 L265P is a useful adjunct for bone marrow diagnosis in separat... DisGeNET Detail
The most distinguishing features of LPL with respect to MZL were focal paratrabecular involvement (P... DisGeNET Detail
Thus, pyrosequencing for the MYD88 L265P mutation demonstrates a high clinical sensitivity and speci... DisGeNET Detail
Thus, MYD88 may be crucial for lymphoma progression, independent of MYD88 L265P mutation. DisGeNET Detail
Contrary to most cutaneous lymphomas that rarely harbor primary genetic alteration of their nodal hi... DisGeNET Detail
In conclusion the detection of MYD88 L265P mutation in FFPE samples is reliable and useful for subty... DisGeNET Detail
Heterozygous MYD88 L265P mutations were identified in 11 (9.2%) DLBCL cases, all of which were diagn... DisGeNET Detail
Validated somatic mutations occurring in &gt;10% of patients included MYD88, CXCR4, and ARID1A that ... DisGeNET Detail
Although not entirely specific, MYD88 L265P is a useful adjunct for bone marrow diagnosis in separat... DisGeNET Detail
This has fueled major interest in the field and as newer evidence accumulates, it is clear that that... DisGeNET Detail
Recurrent L265P mutation of myeloid differentiation primary response gene 88 (MYD88) has been identi... DisGeNET Detail
MYD88 (L265P) somatic mutation in marginal zone B-cell lymphoma. DisGeNET Detail
Thus, pyrosequencing for the MYD88 L265P mutation demonstrates a high clinical sensitivity and speci... DisGeNET Detail
IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and W... DisGeNET Detail
Significance of MYD88 L265P Mutation Status in the Subclassification of Low-Grade B-Cell Lymphoma/Le... DisGeNET Detail
MYD88 L265P in Waldenström macroglobulinemia, immunoglobulin M monoclonal gammopathy, and other B-ce... DisGeNET Detail
CXCR4 WHIM-like frameshift and nonsense mutations promote ibrutinib resistance but do not supplant M... DisGeNET Detail
Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patie... DisGeNET Detail
Detection of MYD88 L265P mutations in formalin-fixed and decalcified BM biopsies from patients with ... DisGeNET Detail
Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences in clinical and bio... DisGeNET Detail
Validated somatic mutations occurring in &gt;10% of patients included MYD88, CXCR4, and ARID1A that ... DisGeNET Detail
MYD88 L265P was found in 49/51 (96%) LPL cases and in 1/13 (7·6%) MZL (splenic type), whereas all CL... DisGeNET Detail
MyD-88 L265P mutations are present in some cases of vitreoretinal lymphoma. DisGeNET Detail
The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular ly... DisGeNET Detail
IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and W... DisGeNET Detail
Fewer patients with MYD88(L265P) and CXCR4(WHIM/FS or NS) vs MYD88(L265P)CXCR4(WT) presented with ad... DisGeNET Detail
Although not entirely specific, MYD88 L265P is a useful adjunct for bone marrow diagnosis in separat... DisGeNET Detail
Thus, pyrosequencing for the MYD88 L265P mutation demonstrates a high clinical sensitivity and speci... DisGeNET Detail
Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences in clinical and bio... DisGeNET Detail
We genotyped lymphoplasmacytic cells from 175 WM patients and observed significantly higher bone mar... DisGeNET Detail
MYD88 L265P was found in 49/51 (96%) LPL cases and in 1/13 (7·6%) MZL (splenic type), whereas all CL... DisGeNET Detail
The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular ly... DisGeNET Detail
The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular ly... DisGeNET Detail
MYD88 (L265P) somatic mutation in marginal zone B-cell lymphoma. DisGeNET Detail
Although the absence of the MyD88 L265P somatic mutation in our SS cohort does not exclude a common ... DisGeNET Detail
L265P mutation of the MYD88 gene is frequent in Waldenström's macroglobulinemia and its absence in m... DisGeNET Detail
The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular ly... DisGeNET Detail
An oncogenic gain-of-function mutation (L265P) in the human MYD88 gene has been found to be present ... DisGeNET Detail
Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patie... DisGeNET Detail
The most distinguishing features of LPL with respect to MZL were focal paratrabecular involvement (P... DisGeNET Detail
After reclassification, MYD88 L265P was detected in 13/86 (15%) SMZL and in 19/24 LPL (79%) cases. DisGeNET Detail
In a population-based patient cohort, SPIBhigh/BATFlow-ABC-DLBCL is enriched for mutation of MYD88, ... DisGeNET Detail
MYD88 (L265P) was detected in 58/58 (100%) patients with WM, 36/77 (47%) with IgM-MGUS, 5/84 (6%) wi... DisGeNET Detail
In order to evaluate whether the presence of the recently described MYD88 L265P mutation in patients... DisGeNET Detail
The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular ly... DisGeNET Detail
IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and W... DisGeNET Detail
Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom's macroglo... DisGeNET Detail
A new era for Waldenstrom macroglobulinemia: MYD88 L265P. DisGeNET Detail
MYD88 L265P was absent in paired normal tissue samples from patients with Waldenström's macroglobuli... DisGeNET Detail
L265P mutation of the MYD88 gene is frequent in Waldenström's macroglobulinemia and its absence in m... DisGeNET Detail
Validated somatic mutations occurring in &gt;10% of patients included MYD88, CXCR4, and ARID1A that ... DisGeNET Detail
To sum up, ASO-RQ-PCR is an inexpensive, robust, and optimized method for the detection of MYD88 L26... DisGeNET Detail
MYD88 L265P somatic mutation: its usefulness in the differential diagnosis of bone marrow involvemen... DisGeNET Detail
MYD88 L265P is highly prevalent in Waldenstrom's Macroglobulinemia (WM) and IgM monoclonal gammopath... DisGeNET Detail
Contrary to most cutaneous lymphomas that rarely harbor primary genetic alteration of their nodal hi... DisGeNET Detail
Detection of MYD88 L265P in peripheral blood of patients with Waldenström's Macroglobulinemia and Ig... DisGeNET Detail
Detection of MYD88 L265P mutations in formalin-fixed and decalcified BM biopsies from patients with ... DisGeNET Detail
MYD88 L265P mutation in Waldenstrom macroglobulinemia. DisGeNET Detail
Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patie... DisGeNET Detail
Clonotypic analysis of immunoglobulin heavy chain sequences in patients with Waldenström's macroglob... DisGeNET Detail
MYD88 expression and L265P mutation in diffuse large B-cell lymphoma. DisGeNET Detail
MYD88 L265P mutation has been reported in ∼90% of Waldenström's Macroglobulinemia (WM) patients and ... DisGeNET Detail
The absence of plasmacytoid cells, the presence of plasma cells predominantly outside the nodular ly... DisGeNET Detail
IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and W... DisGeNET Detail
MYD88(L265P) and CXCR4(WHIM) mutations are highly prevalent in Waldenström's macroglobulinemia. DisGeNET Detail
MYD88 L265P was found in 49/51 (96%) LPL cases and in 1/13 (7·6%) MZL (splenic type), whereas all CL... DisGeNET Detail
Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patie... DisGeNET Detail
IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and W... DisGeNET Detail
A mutation in MYD88 (L265P) supports the survival of lymphoplasmacytic cells by activation of Bruton... DisGeNET Detail
Significance of MYD88 L265P Mutation Status in the Subclassification of Low-Grade B-Cell Lymphoma/Le... DisGeNET Detail
Contrary to most cutaneous lymphomas that rarely harbor primary genetic alteration of their nodal hi... DisGeNET Detail
Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patie... DisGeNET Detail
The MYD88 L265P mutation has been identified in the vast majority of patients with WM. DisGeNET Detail
IGHV gene features and MYD88 L265P mutation separate the three marginal zone lymphoma entities and W... DisGeNET Detail
Direct inhibition of MYD88(L265P) signalling overcomes CXCL12 triggered survival effects in CXCR4(WH... DisGeNET Detail
We genotyped lymphoplasmacytic cells from 175 WM patients and observed significantly higher bone mar... DisGeNET Detail
This study confirms the strong association of the MYD88 L265P mutation with LPL, as well as the exis... DisGeNET Detail
Clonotypic analysis of immunoglobulin heavy chain sequences in patients with Waldenström's macroglob... DisGeNET Detail
A mutation in MYD88 (L265P) supports the survival of lymphoplasmacytic cells by activation of Bruton... DisGeNET Detail
Although the absence of the MyD88 L265P somatic mutation in our SS cohort does not exclude a common ... DisGeNET Detail
MYD88 L265P is a marker highly characteristic of, but not restricted to, Waldenström's macroglobulin... DisGeNET Detail
MYD88 L265P mutation has been reported in ∼90% of Waldenström's Macroglobulinemia (WM) patients and ... DisGeNET Detail
Detection of MYD88 L265P in peripheral blood of patients with Waldenström's Macroglobulinemia and Ig... DisGeNET Detail
We evaluated the MYD88 L265P mutation in Waldenström's macroglobulinemia (WM) and B-cell lymphoproli... DisGeNET Detail
Beyond the discovery of the myeloid differentiation primary response gene 88 (MYD88) L265P mutation,... DisGeNET Detail
Using either assay, MYD88 L265P was detected in 97 of 104 (93%) WM and 13 of 24 (54%) IgM MGUS patie... DisGeNET Detail
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... DisGeNET Detail
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... DisGeNET Detail
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... DisGeNET Detail
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... DisGeNET Detail
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... DisGeNET Detail
They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs387907272 dbSNP
Genome
hg19
Position
chr3:38,182,641-38,182,641
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121396
Allele Counts in All Race (ExAC)
12
Heterozygous Counts in All Race (ExAC)
12
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
9.885004448252002E-5
Variant (CIViC) (CIViC Variant)
L265P
Transcript 1 (CIViC Variant)
ENST00000396334.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/424
Genome browser