NM_000304.4(PMP22):c.478G>A (p.Glu160Lys) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000764105.1

Allele description [Variation Report for NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)]

NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)

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.478G>A (p.Glu160Lys)
HGVS:
  • NC_000017.11:g.15230922C>T
  • NG_007949.1:g.39406G>A
  • NM_000304.4:c.478G>AMANE SELECT
  • NM_001281455.2:c.478G>A
  • NM_001281456.2:c.478G>A
  • NM_153321.3:c.478G>A
  • NM_153322.3:c.478G>A
  • NP_000295.1:p.Glu160Lys
  • NP_001268384.1:p.Glu160Lys
  • NP_001268385.1:p.Glu160Lys
  • NP_696996.1:p.Glu160Lys
  • NP_696997.1:p.Glu160Lys
  • LRG_263:g.39406G>A
  • NC_000017.10:g.15134239C>T
  • NM_000304.3:c.478G>A
  • NR_104017.2:n.573G>A
  • NR_104018.2:n.473G>A
Protein change:
E160K
Links:
dbSNP: rs1022583382
NCBI 1000 Genomes Browser:
rs1022583382
Molecular consequence:
  • NM_000304.4:c.478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.478G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.573G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.473G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Guillain-Barre syndrome, familial (GBS)
Synonyms:
POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, ACUTE
Identifiers:
MONDO: MONDO:0007691; MedGen: C4083008; Orphanet: 98916; OMIM: 139393
Name:
Hereditary liability to pressure palsies (HNPP)
Synonyms:
Hereditary neuropathy with liability to pressure palsy; Polyneuropathy, familial recurrent; Tomaculous neuropathy; See all synonyms [MedGen]
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 and deafness (CMT1E)
Synonyms:
CMT 1E; Charcot-Marie-Tooth disease, demyelinating, Type 1E; Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant; 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, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A; HEREDITARY MOTOR AND SENSORY NEUROPATHY IA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007309; MedGen: C0270911; Orphanet: 101081; OMIM: 118220
Name:
Dejerine-Sottas disease
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, TYPE 3; 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000895073Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics,Fulgent Genetics, SCV000895073.1

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

Last Updated: Oct 30, 2021

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