U.S. flag

An official website of the United States government

NM_016156.6(MTMR2):c.323C>T (p.Thr108Met) AND Charcot-Marie-Tooth disease type 4B1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 26, 2024
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:
RCV003485999.1

Allele description [Variation Report for NM_016156.6(MTMR2):c.323C>T (p.Thr108Met)]

NM_016156.6(MTMR2):c.323C>T (p.Thr108Met)

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.323C>T (p.Thr108Met)
HGVS:
  • NC_000011.10:g.95862306G>A
  • NG_008333.1:g.66902C>T
  • NM_001243571.2:c.107C>T
  • NM_016156.6:c.323C>TMANE SELECT
  • NM_201278.3:c.107C>T
  • NM_201281.3:c.107C>T
  • NP_001230500.1:p.Thr36Met
  • NP_057240.3:p.Thr108Met
  • NP_057240.3:p.Thr108Met
  • NP_958435.1:p.Thr36Met
  • NP_958438.1:p.Thr36Met
  • LRG_257t1:c.323C>T
  • LRG_257:g.66902C>T
  • LRG_257p1:p.Thr108Met
  • NC_000011.9:g.95595470G>A
  • NM_016156.5:c.323C>T
Protein change:
T108M
Molecular consequence:
  • NM_001243571.2:c.107C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016156.6:c.323C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201278.3:c.107C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201281.3:c.107C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004232639Human Genetics Unit, University Of Colombo
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 26, 2024) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Sinhaleseunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Human Genetics Unit, University Of Colombo, SCV004232639.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Sinhalese1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 16, 2024