NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) AND not specified

Germline classification:: Benign (2 submissions)
Last evaluated:: May 23, 2014
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000126849.2

Allele description [Variation Report for NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)]

NM_016156.6(MTMR2):c.1233G>A (p.Thr411=)

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.1233G>A (p.Thr411=)

Other names:

p.T411T:ACG>ACA

HGVS:

NC_000011.10:g.95845106C>T
NG_008333.1:g.84102G>A
NM_001243571.2:c.1017G>A
NM_003912.1:c.1233G>A
NM_016156.6:c.1233G>AMANE SELECT
NM_201278.3:c.1017G>A
NM_201281.3:c.1017G>A
NP_001230500.1:p.Thr339=
NP_057240.3:p.Thr411=
NP_057240.3:p.Thr411=
NP_958435.1:p.Thr339=
NP_958438.1:p.Thr339=
LRG_257t1:c.1233G>A
LRG_257:g.84102G>A
LRG_257p1:p.Thr411=
NC_000011.9:g.95578270C>T
NM_016156.5:c.1233G>A
p.Thr411Thr

Links:

dbSNP: rs113897932

NCBI 1000 Genomes Browser:

rs113897932

Molecular consequence:

NM_001243571.2:c.1017G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_016156.6:c.1233G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_201278.3:c.1017G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_201281.3:c.1017G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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Danio rerio poly(A) binding protein interacting protein 1 (paip1), mRNA
Danio rerio poly(A) binding protein interacting protein 1 (paip1), mRNA
gi|51011096|ref|NM_001003504.1|

Nucleotide
RNA pseudouridylate synthase domain-containing protein 1 [Danio rerio]
RNA pseudouridylate synthase domain-containing protein 1 [Danio rerio]
gi|115529387|ref|NP_001070221.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000170378	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (May 23, 2014)	germline	clinical testing	Citation Link,
SCV000929638	Inherited Neuropathy Consortium	no assertion criteria provided	Benign	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000170378

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(May 23, 2014)

germline

clinical testing

Citation Link,

SCV000929638

Inherited Neuropathy Consortium

no assertion criteria provided

Benign

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing, literature only

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 GeneDx, SCV000170378.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Inherited Neuropathy Consortium, SCV000929638.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: Sep 29, 2024

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