NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) AND Charcot-Marie-Tooth disease type 4B1

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Jul 25, 2019
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001094172.11

Allele description [Variation Report for NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)]

NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)

Gene:

MTMR2:myotubularin related protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q21

Genomic location:

Preferred name:

NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly)

HGVS:

NC_000011.10:g.95835417G>C
NG_008333.1:g.93791C>G
NM_001243571.2:c.1589C>G
NM_016156.6:c.1805C>GMANE SELECT
NM_201278.3:c.1589C>G
NM_201281.3:c.1589C>G
NP_001230500.1:p.Ala530Gly
NP_057240.3:p.Ala602Gly
NP_057240.3:p.Ala602Gly
NP_958435.1:p.Ala530Gly
NP_958438.1:p.Ala530Gly
LRG_257t1:c.1805C>G
LRG_257:g.93791C>G
LRG_257p1:p.Ala602Gly
NC_000011.9:g.95568581G>C
NM_016156.5:c.1805C>G

Protein change:

A530G

Links:

dbSNP: rs76784113

NCBI 1000 Genomes Browser:

rs76784113

Molecular consequence:

NM_001243571.2:c.1589C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_016156.6:c.1805C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201278.3:c.1589C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_201281.3:c.1589C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease type 4B1
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B1; CMT 4B1; Charcot-Marie-Tooth disease, Type 4B; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011066; MedGen: C1832399; Orphanet: 99955; OMIM: 601382

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000374985	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV001473174	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Benign (Jul 25, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000374985

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

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

Citation Link,

SCV001473174

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Benign
(Jul 25, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.

Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR.

Neurogenetics. 2001 Mar;3(2):107-9.

PubMed [citation]

PMID:: 11354824

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000374985.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001473174.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 5, 2024

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