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NM_002677.5(PMP2):c.167G>T (p.Ser56Ile) AND Charcot-Marie-Tooth disease, demyelinating, type 1G

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 9, 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:
RCV004555990.1

Allele description [Variation Report for NM_002677.5(PMP2):c.167G>T (p.Ser56Ile)]

NM_002677.5(PMP2):c.167G>T (p.Ser56Ile)

Gene:
PMP2:peripheral myelin protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q21.13
Genomic location:
Preferred name:
NM_002677.5(PMP2):c.167G>T (p.Ser56Ile)
HGVS:
  • NC_000008.11:g.81444896C>A
  • NG_052979.1:g.7628G>T
  • NM_001348381.2:c.74-295G>T
  • NM_002677.5:c.167G>TMANE SELECT
  • NP_002668.1:p.Ser56Ile
  • NC_000008.10:g.82357131C>A
Protein change:
S56I
Molecular consequence:
  • NM_001348381.2:c.74-295G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_002677.5:c.167G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, demyelinating, type 1G (CMT1G)
Identifiers:
MONDO: MONDO:0033135; MedGen: C4748940; OMIM: 618279

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005045120Clinical Genomics Laboratory, Washington University in St. Louis
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 9, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot 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 Clinical Genomics Laboratory, Washington University in St. Louis, SCV005045120.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The PMP2 c.167G>T (p.Ser56Ile) variant, to our knowledge, has not been reported in the medical literature and is absent from the general population (gnomAD v.2.1.1), indicating it is not a common variant. This variant resides within the fatty acid coordinating region of PMP2 that is defined as a critical functional domain (Palaima P et al., PMID: 31412900) and several other nearby pathogenic or likely pathogenic variants have been identified as occurring de novo in affected individuals (Motley WW et al., PMID: 27009151). Computational predictors are uncertain as to the impact of this variant on PMP2 function. Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as likely pathogenic.

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

Last Updated: May 26, 2024