NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) AND Lymphoma

Clinical significance:Likely pathogenic (Last evaluated: Dec 26, 2014)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000425047.1

Allele description [Variation Report for NM_002468.5(MYD88):c.755T>C (p.Leu252Pro)]

NM_002468.5(MYD88):c.755T>C (p.Leu252Pro)

Gene:
MYD88:MYD88 innate immune signal transduction adaptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_002468.5(MYD88):c.755T>C (p.Leu252Pro)
Other names:
L265P; *160R; *192R; *246R; *147R; *201R
HGVS:
  • NC_000003.12:g.38141150T>C
  • NG_016964.1:g.7673T>C
  • NG_023225.1:g.1093A>G
  • NM_001172566.2:c.439T>C
  • NM_001172567.2:c.779T>C
  • NM_001172568.2:c.620T>C
  • NM_001172569.3:c.574T>C
  • NM_001365876.1:c.736T>C
  • NM_001365877.1:c.601T>C
  • NM_001374787.1:c.712T>C
  • NM_001374788.1:c.287T>C
  • NM_002468.5:c.755T>CMANE SELECT
  • NP_001166037.2:p.Ter147Arg
  • NP_001166038.2:p.Leu260Pro
  • NP_001166039.2:p.Leu207Pro
  • NP_001166040.2:p.Ter192Arg
  • NP_001352805.1:p.Ter246Arg
  • NP_001352806.1:p.Ter201Arg
  • NP_001361716.1:p.Ter238Arg
  • NP_001361717.1:p.Leu96Pro
  • NP_002459.3:p.Leu252Pro
  • LRG_157:g.7673T>C
  • NC_000003.11:g.38182641T>C
  • NM_002468.4:c.794T>C
  • NR_164663.1:n.438T>C
Note:
Note that rs38182641, from OMIM 602170.0004, is incorrect.
Protein change:
L207P; LEU265PRO
Links:
OMIM: 602170.0004; dbSNP: rs387907272
NCBI 1000 Genomes Browser:
rs387907272
Molecular consequence:
  • NM_001172567.2:c.779T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001172568.2:c.620T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374788.1:c.287T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002468.5:c.755T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_164663.1:n.438T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001172566.2:c.439T>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001172569.3:c.574T>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001365876.1:c.736T>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001365877.1:c.601T>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001374787.1:c.712T>C - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Name:
Lymphoma
Identifiers:
MONDO: MONDO:0005062; MeSH: D008223; MedGen: C0024299; Orphanet: 223735; Human Phenotype Ontology: HP:0002665

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000505315Database of Curated Mutations (DoCM)no assertion criteria providedLikely pathogenic
(Dec 26, 2014)
somaticliterature only

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Oncogenically active MYD88 mutations in human lymphoma.

Ngo VN, Young RM, Schmitz R, Jhavar S, Xiao W, Lim KH, Kohlhammer H, Xu W, Yang Y, Zhao H, Shaffer AL, Romesser P, Wright G, Powell J, Rosenwald A, Muller-Hermelink HK, Ott G, Gascoyne RD, Connors JM, Rimsza LM, Campo E, Jaffe ES, et al.

Nature. 2011 Feb 3;470(7332):115-9. doi: 10.1038/nature09671. Epub 2010 Dec 22.

PubMed [citation]
PMID:
21179087
PMCID:
PMC5024568

Details of each submission

From Database of Curated Mutations (DoCM), SCV000505315.1

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

Last Updated: Oct 7, 2021

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