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NM_018972.4(GDAP1):c.116del (p.Lys39fs) AND Charcot-Marie-Tooth disease axonal type 2K

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 6, 2016
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:
RCV003447240.1

Allele description [Variation Report for NM_018972.4(GDAP1):c.116del (p.Lys39fs)]

NM_018972.4(GDAP1):c.116del (p.Lys39fs)

Genes:
LOC130000622:ATAC-STARR-seq lymphoblastoid active region 27542 [Gene]
GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
8q21.11
Genomic location:
Preferred name:
NM_018972.4(GDAP1):c.116del (p.Lys39fs)
HGVS:
  • NC_000008.11:g.74350577del
  • NG_008787.3:g.34448del
  • NM_001040875.4:c.-64+105del
  • NM_001362929.2:c.-67del
  • NM_001362930.2:c.116del
  • NM_001362931.2:c.116del
  • NM_001362932.2:c.-19del
  • NM_018972.4:c.116delMANE SELECT
  • NP_001349859.1:p.Lys39fs
  • NP_001349860.1:p.Lys39fs
  • NP_061845.2:p.Lys39fs
  • LRG_244t1:c.116del
  • LRG_244:g.34448del
  • NC_000008.10:g.75262809del
  • NC_000008.10:g.75262812del
  • NM_018972.2:c.116delA
Protein change:
K39fs
Links:
dbSNP: rs778547659
NCBI 1000 Genomes Browser:
rs778547659
Molecular consequence:
  • NM_001362929.2:c.-67del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001362932.2:c.-19del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001362930.2:c.116del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362931.2:c.116del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018972.4:c.116del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001040875.4:c.-64+105del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Charcot-Marie-Tooth disease axonal type 2K
Synonyms:
CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K; Charcot-Marie-Tooth disease type 2K; Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K
Identifiers:
MONDO: MONDO:0011916; MedGen: C1842983; Orphanet: 99944; OMIM: 607831

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004174587Inherited Neuropathy Consortium Ii, University Of Miami
no assertion criteria provided
Uncertain significance
(Jan 6, 2016) 		germlineliterature 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

The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York MD, Batish SD, Lupski JR, Higgins JJ.

Mol Genet Genomic Med. 2014 Nov;2(6):522-9. doi: 10.1002/mgg3.106. Epub 2014 Aug 21.

PubMed [citation]
PMID:
25614874
PMCID:
PMC4303222

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174587.1

#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: Sep 29, 2024