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NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys) AND Charcot-Marie-Tooth disease type 4B1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 2, 2023
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:
RCV003615882.1

Allele description [Variation Report for NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys)]

NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys)

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.146C>G (p.Ser49Cys)
HGVS:
  • NC_000011.10:g.95888196G>C
  • NG_008333.1:g.41012C>G
  • NM_001243571.2:c.-267C>G
  • NM_016156.6:c.146C>GMANE SELECT
  • NM_201278.3:c.-194C>G
  • NM_201281.3:c.-71C>G
  • NP_057240.3:p.Ser49Cys
  • LRG_257:g.41012C>G
  • NC_000011.9:g.95621360G>C
Protein change:
S49C
Links:
dbSNP: rs1170327910
NCBI 1000 Genomes Browser:
rs1170327910
Molecular consequence:
  • NM_001243571.2:c.-267C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_201278.3:c.-194C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_201281.3:c.-71C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_016156.6:c.146C>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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004565254ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)		Uncertain significance
(Mar 2, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV004565254.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The MTMR2 c.146C>G; p.Ser49Cys variant (rs1170327910), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1494538). This variant is found in the non-Finnish European population with an allele frequency of 0.003% (3/113632 alleles) in the Genome Aggregation Database. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.408). Due to limited information, the clinical significance of this variant is uncertain at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024