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NM_000304.4(PMP22):c.260T>C (p.Leu87Pro) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 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:
RCV004546600.1

Allele description [Variation Report for NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)]

NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)
HGVS:
  • NC_000017.11:g.15239530A>G
  • NG_007949.1:g.30798T>C
  • NM_000304.4:c.260T>CMANE SELECT
  • NM_001281455.2:c.260T>C
  • NM_001281456.2:c.260T>C
  • NM_001330143.2:c.260T>C
  • NM_153321.3:c.260T>C
  • NM_153322.3:c.260T>C
  • NP_000295.1:p.Leu87Pro
  • NP_001268384.1:p.Leu87Pro
  • NP_001268385.1:p.Leu87Pro
  • NP_001317072.1:p.Leu87Pro
  • NP_696996.1:p.Leu87Pro
  • NP_696997.1:p.Leu87Pro
  • LRG_263:g.30798T>C
  • NC_000017.10:g.15142847A>G
  • NR_104017.2:n.355T>C
  • NR_104018.2:n.255T>C
Protein change:
L87P
Links:
dbSNP: rs1907114176
NCBI 1000 Genomes Browser:
rs1907114176
Molecular consequence:
  • NM_000304.4:c.260T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.260T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.260T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.260T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.260T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.260T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.355T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.255T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Guillain-Barre syndrome, familial (GBS)
Identifiers:
MONDO: MONDO:0007691; MedGen: C4083008; Orphanet: 98916; OMIM: 139393
Name:
Hereditary liability to pressure palsies (HNPP)
Synonyms:
POLYNEUROPATHY, FAMILIAL RECURRENT; TOMACULOUS NEUROPATHY; Hereditary Neuropathy with Liability to Pressure Palsies
Identifiers:
MONDO: MONDO:0008087; MedGen: C0393814; Orphanet: 640; OMIM: 162500
Name:
Roussy-Lévy syndrome
Synonyms:
Roussy-Levy Syndrome; Roussy Levy hereditary areflexic dystasia; Roussy-Levy disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008392; MedGen: C0205713; Orphanet: 3115; OMIM: 180800
Name:
Charcot-Marie-Tooth disease type 1E
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1E; CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT; Charcot-Marie-Tooth disease and deafness; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007311; MedGen: C3495591; Orphanet: 90658; OMIM: 118300
Name:
Charcot-Marie-Tooth disease, type IA (CMT1A)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007309; MedGen: C0270911; Orphanet: 101081; OMIM: 118220
Name:
Dejerine-Sottas disease
Synonyms:
DEJERINE-SOTTAS NEUROPATHY; HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN Type III; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007790; MedGen: C0011195; Orphanet: 64748; OMIM: 145900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005043030Institute of Immunology and Genetics Kaiserslautern
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 11, 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 Institute of Immunology and Genetics Kaiserslautern, SCV005043030.1

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

Description

ACMG Criteria: PM2_P, PP3; Variant was found in heterozygous state

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

Last Updated: Jun 22, 2025