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NM_000304.4(PMP22):c.443_444del (p.Leu148fs) AND Charcot-Marie-Tooth disease

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000790170.1

Allele description [Variation Report for NM_000304.4(PMP22):c.443_444del (p.Leu148fs)]

NM_000304.4(PMP22):c.443_444del (p.Leu148fs)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.443_444del (p.Leu148fs)
HGVS:
  • NC_000017.11:g.15230956GA[1]
  • NG_007949.1:g.39369TC[1]
  • NM_000304.4:c.443_444delMANE SELECT
  • NM_001281455.2:c.443_444del
  • NM_001281456.2:c.443_444del
  • NM_153321.3:c.443_444del
  • NM_153322.3:c.443_444del
  • NP_000295.1:p.Leu148fs
  • NP_001268384.1:p.Leu148fs
  • NP_001268385.1:p.Leu148fs
  • NP_696996.1:p.Leu148fs
  • NP_696997.1:p.Leu148fs
  • LRG_263:g.39369TC[1]
  • NC_000017.10:g.15134273GA[1]
  • NM_000304.3:c.443_444delTC
  • NR_104017.2:n.536TC[1]
  • NR_104018.2:n.436TC[1]
Protein change:
L148fs
Links:
dbSNP: rs1597597443
NCBI 1000 Genomes Browser:
rs1597597443
Molecular consequence:
  • NM_000304.4:c.443_444del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281455.2:c.443_444del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281456.2:c.443_444del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_153321.3:c.443_444del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_153322.3:c.443_444del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_104017.2:n.536TC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104018.2:n.436TC[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Charcot-Marie-Tooth disease
Synonyms:
Charcot-Marie-Tooth Neuropathy
Identifiers:
MONDO: MONDO:0015626; MedGen: C0007959; OMIM: PS118220

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000929561Inherited Neuropathy Consortium
no assertion criteria provided
Uncertain significancegermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

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

Details of each submission

From Inherited Neuropathy Consortium, SCV000929561.1

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

Last Updated: Apr 23, 2022