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NM_170707.4(LMNA):c.99G>T (p.Glu33Asp) 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:
RCV000790002.1

Allele description [Variation Report for NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)]

NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)

Genes:
LOC129931597:ATAC-STARR-seq lymphoblastoid silent region 1421 [Gene]
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)
HGVS:
  • NC_000001.11:g.156115017G>T
  • NG_008692.2:g.37445G>T
  • NM_001282625.2:c.99G>T
  • NM_001282626.2:c.99G>T
  • NM_005572.4:c.99G>T
  • NM_170707.4:c.99G>TMANE SELECT
  • NM_170708.4:c.99G>T
  • NP_001269554.1:p.Glu33Asp
  • NP_001269555.1:p.Glu33Asp
  • NP_005563.1:p.Glu33Asp
  • NP_733821.1:p.Glu33Asp
  • NP_733822.1:p.Glu33Asp
  • LRG_254t2:c.99G>T
  • LRG_254:g.37445G>T
  • NC_000001.10:g.156084808G>T
  • NM_170707.2:c.99G>T
  • NM_170707.3:c.99G>T
  • P02545:p.Glu33Asp
Protein change:
E33D
Links:
UniProtKB: P02545#VAR_039750; dbSNP: rs57966821
NCBI 1000 Genomes Browser:
rs57966821
Molecular consequence:
  • NM_001282625.2:c.99G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.99G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.99G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.99G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170708.4:c.99G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000929391Inherited 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

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

Goizet C, Yaou RB, Demay L, Richard P, Bouillot S, Rouanet M, Hermosilla E, Le Masson G, Lagueny A, Bonne G, Ferrer X.

J Med Genet. 2004 Mar;41(3):e29. No abstract available.

PubMed [citation]
PMID:
14985400
PMCID:
PMC1735710

Details of each submission

From Inherited Neuropathy Consortium, SCV000929391.1

#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: Feb 20, 2024