NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu) AND Charcot-Marie-Tooth disease, axonal, type 2S

Clinical significance:Likely pathogenic (Last evaluated: Apr 25, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000664228.1

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)]

NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)

Gene:
IGHMBP2:immunoglobulin mu DNA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
HGVS:
  • NC_000011.10:g.68933899C>T
  • NG_007976.1:g.35049C>T
  • NM_002180.3:c.1523C>TMANE SELECT
  • NP_002171.2:p.Ser508Leu
  • NP_002171.2:p.Ser508Leu
  • LRG_250t1:c.1523C>T
  • LRG_250:g.35049C>T
  • LRG_250p1:p.Ser508Leu
  • NC_000011.9:g.68701367C>T
  • NM_002180.2:c.1523C>T
Protein change:
S508L
Links:
dbSNP: rs754465226
NCBI 1000 Genomes Browser:
rs754465226
Molecular consequence:
  • NM_002180.3:c.1523C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease, axonal, type 2S (CMT2S)
Synonyms:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S
Identifiers:
MONDO: MONDO:0014511; MedGen: C4015349; Orphanet: 443073; OMIM: 616155

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000787793Institute of Human Genetics,Cologne Universityno assertion criteria providedLikely pathogenic
(Apr 25, 2018)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics,Cologne University, SCV000787793.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

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