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NM_000304.4(PMP22):c.434del (p.Leu145fs) AND Charcot-Marie-Tooth disease, type IA

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jun 17, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000201019.5

Allele description [Variation Report for NM_000304.4(PMP22):c.434del (p.Leu145fs)]

NM_000304.4(PMP22):c.434del (p.Leu145fs)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.434del (p.Leu145fs)
HGVS:
  • NC_000017.11:g.15230966del
  • NG_007949.1:g.39362del
  • NM_000304.4:c.434delMANE SELECT
  • NM_001281455.2:c.434del
  • NM_001281456.2:c.434del
  • NM_153321.3:c.434del
  • NM_153322.3:c.434del
  • NP_000295.1:p.Leu145fs
  • NP_001268384.1:p.Leu145fs
  • NP_001268385.1:p.Leu145fs
  • NP_696996.1:p.Leu145fs
  • NP_696997.1:p.Leu145fs
  • LRG_263t1:c.434del
  • LRG_263:g.39362del
  • NC_000017.10:g.15134283del
  • NM_000304.2:c.434delT
  • NM_000304.3:c.434del
  • NM_000304.3:c.434delT
  • NM_000304.4:c.434delTMANE SELECT
  • NR_104017.2:n.529del
  • NR_104018.2:n.429del
Protein change:
L145fs
Links:
dbSNP: rs863225029
NCBI 1000 Genomes Browser:
rs863225029
Molecular consequence:
  • NM_000304.4:c.434del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281455.2:c.434del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281456.2:c.434del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_153321.3:c.434del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_153322.3:c.434del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_104017.2:n.529del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.429del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000255808Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Pathogenic
(Jul 30, 2014) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV002556845Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 17, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis.

Benedetti S, Previtali SC, Coviello S, Scarlato M, Cerri F, Di Pierri E, Piantoni L, Spiga I, Fazio R, Riva N, Natali Sora MG, Dacci P, Malaguti MC, Munerati E, Grimaldi LM, Marrosu MG, De Pellegrin M, Ferrari M, Comi G, Quattrini A, Bolino A.

Arch Neurol. 2010 Dec;67(12):1498-505. doi: 10.1001/archneurol.2010.303.

PubMed [citation]
PMID:
21149811

Inherited demyelinating neuropathies with micromutations of peripheral myelin protein 22 gene.

Taioli F, Cabrini I, Cavallaro T, Acler M, Fabrizi GM.

Brain. 2011 Feb;134(Pt 2):608-17. doi: 10.1093/brain/awq374. Epub 2011 Jan 19.

PubMed [citation]
PMID:
21252112
See all PubMed Citations (4)

Details of each submission

From Athena Diagnostics, SCV000255808.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Genetics and Molecular Pathology, SA Pathology, SCV002556845.2

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

Last Updated: Sep 29, 2024