NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jan 19, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001657933.1

Allele description [Variation Report for NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)]

NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)

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.185T>G (p.Leu62Arg)
HGVS:
  • NC_000017.11:g.15239605A>C
  • NG_007949.1:g.30723T>G
  • NM_000304.4:c.185T>GMANE SELECT
  • NM_001281455.2:c.185T>G
  • NM_001281456.2:c.185T>G
  • NM_001330143.2:c.185T>G
  • NM_153321.3:c.185T>G
  • NM_153322.3:c.185T>G
  • NP_000295.1:p.Leu62Arg
  • NP_001268384.1:p.Leu62Arg
  • NP_001268385.1:p.Leu62Arg
  • NP_001317072.1:p.Leu62Arg
  • NP_696996.1:p.Leu62Arg
  • NP_696997.1:p.Leu62Arg
  • LRG_263t1:c.185T>G
  • LRG_263:g.30723T>G
  • NC_000017.10:g.15142922A>C
  • NM_000304.2:c.185T>G
  • NM_000304.3:c.185T>G
  • NR_104017.2:n.280T>G
  • NR_104018.2:n.180T>G
Protein change:
L62R
Links:
dbSNP: rs756046682
NCBI 1000 Genomes Browser:
rs756046682
Molecular consequence:
  • NM_000304.4:c.185T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.185T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.185T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.185T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.185T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.185T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.280T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.180T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001879482Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Jan 19, 2021)
unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T, Buxton C, Dennis G, Forrester N, Smith D, Lunt P, Burton-Jones S.

BMC Med Genet. 2015 Sep 21;16:84. doi: 10.1186/s12881-015-0224-8.

PubMed [citation]
PMID:
26392352
PMCID:
PMC4578331

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics Inc, SCV001879482.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 6, 2021

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