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NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs) AND Charcot-Marie-Tooth disease type 4C

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 18, 2015
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:
RCV000235051.1

Allele description [Variation Report for NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs)]

NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs)

Gene:
SH3TC2:SH3 domain and tetratricopeptide repeats 2 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
5q32
Genomic location:
Preferred name:
NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs)
HGVS:
  • NC_000005.10:g.149038475_149038476insA
  • NG_007947.2:g.29699_29700insT
  • NM_024577.4:c.820_821insTMANE SELECT
  • NP_078853.2:p.Lys274fs
  • NP_078853.2:p.Lys274fs
  • LRG_269t1:c.820_821insT
  • LRG_269:g.29699_29700insT
  • LRG_269p1:p.Lys274fs
  • NC_000005.9:g.148418038_148418039insA
  • NM_024577.3:c.820_821insT
Protein change:
K274fs
Links:
dbSNP: rs879253859
NCBI 1000 Genomes Browser:
rs879253859
Molecular consequence:
  • NM_024577.4:c.820_821insT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 4C (CMT4C)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C; CMT 4C; Charcot-Marie-Tooth Neuropathy Type 4C (CMT4C); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011113; MedGen: C1866636; Orphanet: 99949; OMIM: 601596

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000292346Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(Gonzaga-Jauregui et al. (Cell Rep. 2015))		Pathogenic
(Aug 18, 2015) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedresearch

Citations

PubMed

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA.

Genome Med. 2013;5(6):57. doi: 10.1186/gm461.

PubMed [citation]
PMID:
23806086
PMCID:
PMC3706849

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, et al.

N Engl J Med. 2013 Oct 17;369(16):1502-11. doi: 10.1056/NEJMoa1306555. Epub 2013 Oct 2.

PubMed [citation]
PMID:
24088041
PMCID:
PMC4211433
See all PubMed Citations (3)

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV000292346.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (3)

Description

This variant is predicted deleterious according to ACMG guidelines. Homozygous frameshift leading to stopgain variant in SH3TC2 in a patient with CMT.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Sep 16, 2024