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NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs) AND Charcot-Marie-Tooth disease type 4B1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 5, 2018
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:
RCV001270134.1

Allele description [Variation Report for NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)]

NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)

Gene:
MTMR2:myotubularin related protein 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
11q21
Genomic location:
Preferred name:
NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)
HGVS:
  • NC_000011.10:g.95838149TA[3]
  • NG_008333.1:g.91056TA[3]
  • NM_001243571.2:c.1321_1322dup
  • NM_016156.6:c.1537_1538dupMANE SELECT
  • NM_201278.3:c.1321_1322dup
  • NM_201281.3:c.1321_1322dup
  • NP_001230500.1:p.Ser442fs
  • NP_057240.3:p.Ser514fs
  • NP_958435.1:p.Ser442fs
  • NP_958438.1:p.Ser442fs
  • LRG_257:g.91056TA[3]
  • NC_000011.9:g.95571312_95571313insTA
  • NC_000011.9:g.95571313TA[3]
  • NM_016156.5:c.1537_1538dupTA
Protein change:
S442fs
Links:
dbSNP: rs1555057316
NCBI 1000 Genomes Browser:
rs1555057316
Molecular consequence:
  • NM_001243571.2:c.1321_1322dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016156.6:c.1537_1538dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_201278.3:c.1321_1322dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_201281.3:c.1321_1322dup - frameshift variant - [Sequence Ontology: SO:0001589]
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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001449008Knight Diagnostic Laboratories, Oregon Health and Sciences University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 5, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not 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 Knight Diagnostic Laboratories, Oregon Health and Sciences University, SCV001449008.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024