U.S. flag

An official website of the United States government

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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 31, 2018
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:
RCV000764105.2

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_000304.2:c.478G>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_263t1:c.478G>A
  • 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)
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 type 1E
Synonyms:
CMT 1E; Charcot-Marie-Tooth disease, demyelinating, Type 1E; 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, 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:
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III; HMSN Type III; Hypertrophic neuropathy of Dejerine-Sottas; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007790; MedGen: C0011195; Orphanet: 64748; OMIM: 145900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000895073Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Oct 31, 2018) 		unknownclinical testing

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

Help

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
PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]
PMCID:
PMC4544753
PMID:
25741868
DOI:
10.1038/gim.2015.30

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: Sep 29, 2024