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NM_000304.4(PMP22):c.418T>C (p.Trp140Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 12, 2016
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:
RCV000518626.2

Allele description [Variation Report for NM_000304.4(PMP22):c.418T>C (p.Trp140Arg)]

NM_000304.4(PMP22):c.418T>C (p.Trp140Arg)

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.418T>C (p.Trp140Arg)
HGVS:
  • NC_000017.11:g.15230982A>G
  • NG_007949.1:g.39346T>C
  • NM_000304.4:c.418T>CMANE SELECT
  • NM_001281455.2:c.418T>C
  • NM_001281456.2:c.418T>C
  • NM_153321.3:c.418T>C
  • NM_153322.3:c.418T>C
  • NP_000295.1:p.Trp140Arg
  • NP_001268384.1:p.Trp140Arg
  • NP_001268385.1:p.Trp140Arg
  • NP_696996.1:p.Trp140Arg
  • NP_696997.1:p.Trp140Arg
  • LRG_263t1:c.418T>C
  • LRG_263:g.39346T>C
  • NC_000017.10:g.15134299A>G
  • NM_000304.2:c.418T>C
  • NR_104017.2:n.513T>C
  • NR_104018.2:n.413T>C
  • p.TRP140ARG
Protein change:
W140R
Links:
dbSNP: rs1555564040
NCBI 1000 Genomes Browser:
rs1555564040
Molecular consequence:
  • NM_000304.4:c.418T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.418T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.418T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.418T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.418T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.2:n.513T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.413T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000614677Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Uncertain significance
(Oct 12, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.

Takashima H, Boerkoel CF, Lupski JR.

Genet Med. 2001 Sep-Oct;3(5):335-42.

PubMed [citation]
PMID:
11545686

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, SCV000614677.1

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

Last Updated: Sep 29, 2024