NM_002468.5(MYD88):c.755T>C (p.Leu252Pro) AND Myd88 deficiency

Clinical significance:Uncertain significance (Last evaluated: Jan 5, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000646119.1

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:
Myd88 deficiency (IMD68)
Synonyms:
PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY
Identifiers:
MONDO: MONDO:0012839; MedGen: C2677092; Orphanet: 183713; OMIM: 612260

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000767876Invitaecriteria provided, single submitter
Uncertain significance
(Jan 5, 2018)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

MYD88 L265P somatic mutation in Waldenström's macroglobulinemia.

Treon SP, Xu L, Yang G, Zhou Y, Liu X, Cao Y, Sheehy P, Manning RJ, Patterson CJ, Tripsas C, Arcaini L, Pinkus GS, Rodig SJ, Sohani AR, Harris NL, Laramie JM, Skifter DA, Lincoln SE, Hunter ZR.

N Engl J Med. 2012 Aug 30;367(9):826-33. doi: 10.1056/NEJMoa1200710.

PubMed [citation]
PMID:
22931316

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
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV000767876.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces leucine with proline at codon 265 of the MYD88 protein (p.Leu265Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is present in population databases (rs387907272, ExAC 0.02%). This variant has been reported as a somatic mutation in individuals affected with Waldenström’s macroglobulinemia and activated B-cell-like subtype of diffuse large B-cell lymphoma (PMID: 22931316, 21179087). ClinVar contains an entry for this variant (Variation ID: 37055). Experimental studies have shown that this missense change results in tumorigenic gain-of-function effect (PMID: 21179087). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 8, 2021

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