NM_170707.4(LMNA):c.1696C>G (p.His566Asp) AND Charcot-Marie-Tooth disease type 2B1

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001007472.1

Allele description [Variation Report for NM_170707.4(LMNA):c.1696C>G (p.His566Asp)]

NM_170707.4(LMNA):c.1696C>G (p.His566Asp)

Gene:
LMNA:lamin A/C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_170707.4(LMNA):c.1696C>G (p.His566Asp)
HGVS:
  • NC_000001.11:g.156137741C>G
  • NG_008692.2:g.60169C>G
  • NM_001257374.3:c.1360C>G
  • NM_001282624.2:c.1453C>G
  • NM_001282625.2:c.1696C>G
  • NM_001282626.2:c.1696C>G
  • NM_005572.4:c.1696C>G
  • NM_170707.4:c.1696C>GMANE SELECT
  • NM_170708.4:c.1608+509C>G
  • NP_001244303.1:p.His454Asp
  • NP_001269553.1:p.His485Asp
  • NP_001269554.1:p.His566Asp
  • NP_001269555.1:p.His566Asp
  • NP_005563.1:p.His566Asp
  • NP_733821.1:p.His566Asp
  • LRG_254t2:c.1696C>G
  • LRG_254:g.60169C>G
  • NC_000001.10:g.156107532C>G
  • NM_170707.2:c.1696C>G
  • NM_170707.3:c.1696C>G
Protein change:
H454D
Links:
dbSNP: rs1195284382
NCBI 1000 Genomes Browser:
rs1195284382
Molecular consequence:
  • NM_170708.4:c.1608+509C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001257374.3:c.1360C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282624.2:c.1453C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282625.2:c.1696C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282626.2:c.1696C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005572.4:c.1696C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170707.4:c.1696C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 2B1 (CMT2B1)
Synonyms:
CMT 2B1; Charcot-Marie-Tooth disease, axonal, Type 2B1; Charcot-Marie-Tooth disease, neuronal, Type 2B1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011569; MedGen: C1854154; Orphanet: 98856; OMIM: 605588

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001167088Kariminejad - Najmabadi Pathology & Genetics Centercriteria provided, single submitter
Uncertain significancegermlineclinical testing

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

Summary from all submissions

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

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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001167088.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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