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

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
6 (Most recent: Apr 2, 2018)
Last evaluated:
Jan 5, 2018
Accession:
VCV000037055.2
Variation ID:
37055
Description:
single nucleotide variant
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NM_002468.5(MYD88):c.755T>C (p.Leu252Pro)

Allele ID
45735
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p22.2
Genomic location
3: 38141150 (GRCh38) GRCh38 UCSC
3: 38182641 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_157:g.7673T>C
NC_000003.11:g.38182641T>C
NC_000003.12:g.38141150T>C
... more HGVS
Protein change
L252P, L260P, L207P, L96P
Other names
L265P
*160R
*192R
*246R
*147R
*201R
Canonical SPDI
NC_000003.12:38141149:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00005
1000 Genomes Project 0.00020
Links
ClinGen: CA130043
Genetic Testing Registry (GTR): GTR000560831
OMIM: 602170.0004
dbSNP: rs387907272
VarSome
Comment on variant
Note that rs38182641, from OMIM 602170.0004, is incorrect.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jan 5, 2018 RCV000646119.1
Pathogenic 1 no assertion criteria provided Dec 6, 2012 RCV000030709.6
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000442854.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000431830.1
Likely pathogenic 1 no assertion criteria provided Dec 26, 2014 RCV000425047.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000443819.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYD88 - - GRCh38
GRCh37
54 69

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 05, 2018)
criteria provided, single submitter
Method: clinical testing
Myd88 deficiency
Allele origin: germline
Invitae
Accession: SCV000767876.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (2)
Comment:
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 … (more)
Pathogenic
(Dec 06, 2012)
no assertion criteria provided
Method: literature only
MACROGLOBULINEMIA, WALDENSTROM, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000053370.3
Submitted: (Oct 02, 2014)
Evidence details
Publications
PubMed (3)
Treon, S. P., Xu, L., Hunter, Z. R.  (more...)
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Lymphoma, Non-Hodgkin, Familial
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505314.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(Dec 26, 2014)
no assertion criteria provided
Method: literature only
Lymphoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505315.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Chronic lymphocytic leukemia
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505316.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Multiple myeloma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000505317.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
MYD88 L265P somatic mutation in IgM MGUS. Landgren O The New England journal of medicine 2012 PMID: 23215570
MYD88 L265P somatic mutation in Waldenström's macroglobulinemia. Treon SP The New England journal of medicine 2012 PMID: 22931316
Oncogenically active MYD88 mutations in human lymphoma. Ngo VN Nature 2011 PMID: 21179087
http://docm.genome.wustl.edu/variants/ENST00000417037:c.818T>C - - - -
Treon, S. P., Xu, L., Hunter, Z. R. Reply to Landgren and Staudt. (Letter) New Eng. J. Med. 367: 2256-2257, 2012. - - - -

Text-mined citations for rs387907272...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021