NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) AND Charcot-Marie-Tooth disease, axonal, type 2S

Clinical significance:Likely pathogenic

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:
RCV000768429.2

Allele description [Variation Report for NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)]

NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)

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.1693G>A (p.Asp565Asn)
HGVS:
  • NC_000011.10:g.68935359G>A
  • NG_007976.1:g.36509G>A
  • NM_002180.2:c.1693G>A
  • NM_002180.3:c.1693G>AMANE SELECT
  • NP_002171.2:p.Asp565Asn
  • NP_002171.2:p.Asp565Asn
  • LRG_250t1:c.1693G>A
  • LRG_250:g.36509G>A
  • LRG_250p1:p.Asp565Asn
  • NC_000011.9:g.68702827G>A
Protein change:
D565N
Links:
dbSNP: rs770111639
NCBI 1000 Genomes Browser:
rs770111639
Molecular consequence:
  • NM_002180.2:c.1693G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002180.3:c.1693G>A - 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
SCV000899184Biochemistry Laboratory of CDMU,Chengde Medical Universityno assertion criteria provided
Likely pathogenicinheritedcase-control

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedcase-control

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Biochemistry Laboratory of CDMU,Chengde Medical University, SCV000899184.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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