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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 2019
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:
RCV000856971.1

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
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
SCV000999537Genesis Genome Database
no assertion criteria provided
Uncertain significance
(Aug 14, 2019) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Genesis Genome Database, SCV000999537.1

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

Last Updated: Sep 29, 2024