NM_002677.5(PMP2):c.128T>A (p.Ile43Asn) AND Peripheral neuropathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 18, 2015
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:: RCV000235076.1

Allele description [Variation Report for NM_002677.5(PMP2):c.128T>A (p.Ile43Asn)]

NM_002677.5(PMP2):c.128T>A (p.Ile43Asn)

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.128T>A (p.Ile43Asn)

HGVS:

NC_000008.11:g.81444935A>T
NG_052979.1:g.7589T>A
NM_001348381.2:c.74-334T>A
NM_002677.5:c.128T>AMANE SELECT
NP_002668.1:p.Ile43Asn
NC_000008.10:g.82357170A>T
NM_002677.3:c.128T>A

Protein change:

I43N; ILE43ASN

Links:

OMIM: 170715.0001; dbSNP: rs879253869

NCBI 1000 Genomes Browser:

rs879253869

Molecular consequence:

NM_001348381.2:c.74-334T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_002677.5:c.128T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Peripheral neuropathy
Synonyms:: Neuropathy
Identifiers:: MONDO: MONDO:0005244; MedGen: C0031117; Human Phenotype Ontology: HP:0009830

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000292370	Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	criteria provided, single submitter (Gonzaga-Jauregui et al. (Cell Rep. 2015))	Likely pathogenic (Aug 18, 2015)	paternal	research	PubMed (3) [See all records that cite these PMIDs] 23806086, 24088041, 26257172

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000292370

Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

criteria provided, single submitter

(Gonzaga-Jauregui et al. (Cell Rep. 2015))

Likely pathogenic
(Aug 18, 2015)

paternal

research

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	3	1	not provided	not provided	yes	research

Citations

PubMed

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA.

Genome Med. 2013;5(6):57. doi: 10.1186/gm461.

PubMed [citation]

PMID:: 23806086
PMCID:: PMC3706849

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, et al.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PubMed [citation]

PMID:: 24088041
PMCID:: PMC4211433

See all PubMed Citations (3)

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000292370.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	yes	research	PubMed (3)

Description

Likely pathogenic based on conservation and prediction scores (Phylop, Polyphen, SIFT, MutationTaster) . Variant segregated with the disease in a family with demyelinating peripheral neuropathy. Supported by function of encoded protein in myelin and zebrafish functional assay (PMID: 26257172).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		3	not provided	1	not provided

Last Updated: Mar 5, 2025

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