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NM_000304.4(PMP22):c.362A>G (p.His121Arg) AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000844937.1

Allele description [Variation Report for NM_000304.4(PMP22):c.362A>G (p.His121Arg)]

NM_000304.4(PMP22):c.362A>G (p.His121Arg)

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.362A>G (p.His121Arg)
HGVS:
  • NC_000017.11:g.15231038T>C
  • NG_007949.1:g.39290A>G
  • NM_000304.4:c.362A>GMANE SELECT
  • NM_001281455.2:c.362A>G
  • NM_001281456.2:c.362A>G
  • NM_153321.3:c.362A>G
  • NM_153322.3:c.362A>G
  • NP_000295.1:p.His121Arg
  • NP_001268384.1:p.His121Arg
  • NP_001268385.1:p.His121Arg
  • NP_696996.1:p.His121Arg
  • NP_696997.1:p.His121Arg
  • LRG_263t1:c.362A>G
  • LRG_263:g.39290A>G
  • NC_000017.10:g.15134355T>C
  • NM_000304.2:c.362A>G
  • NM_153321.2:c.362A>G
  • NR_104017.2:n.457A>G
  • NR_104018.2:n.357A>G
Protein change:
H121R
Links:
dbSNP: rs1567698985
NCBI 1000 Genomes Browser:
rs1567698985
Molecular consequence:
  • NM_000304.4:c.362A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.362A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.362A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.362A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.362A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.457A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.357A>G - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986755GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnonot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000986755.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

Variant interpretted as Uncertain significance and reported on 04/12/2017 by GTR ID MNG Laboratories. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: May 7, 2024