NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Nov 10, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001009604.1

Allele description [Variation Report for NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)]

NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.6401_6402del (p.Cys2134fs)
HGVS:
  • NC_000017.11:g.31336886GT[1]
  • NC_000017.11:g.31336886_31336887GT[1]
  • NG_009018.1:g.246910GT[1]
  • NM_000267.3:c.6338_6339del
  • NM_001042492.3:c.6401_6402delMANE SELECT
  • NP_000258.1:p.Cys2113fs
  • NP_001035957.1:p.Cys2134fs
  • LRG_214t1:c.6338_6339del
  • LRG_214t2:c.6401_6402del
  • LRG_214:g.246910GT[1]
  • LRG_214p1:p.Cys2113fs
  • NC_000017.10:g.29663904GT[1]
  • NM_000267.3:c.6338_6339delGT
  • NM_001042492.2:c.6401_6402del
Protein change:
C2113fs
Links:
dbSNP: rs1597843186
NCBI 1000 Genomes Browser:
rs1597843186
Molecular consequence:
  • NM_000267.3:c.6338_6339del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042492.3:c.6401_6402del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Neurofibromatosis, type 1 (NF1)
Synonyms:
NEUROFIBROMATOSIS, TYPE I; NEUROFIBROMATOSIS, PERIPHERAL TYPE; Recklinghausen's disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200
Name:
Tibial pseudoarthrosis
Identifiers:
MedGen: C4024216; Human Phenotype Ontology: HP:0009736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001169705The Laboratory of Genetics and Metabolism, Hunan Children’s Hospitalcriteria provided, single submitter
Pathogenic
(Nov 10, 2018)
de novoresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Han Chinesede novoyes1not providednot providednot providednot providedresearch

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

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.

Zhu G, Zheng Y, Liu Y, Yan A, Hu Z, Yang Y, Xiang S, Li L, Chen W, Peng Y, Zhong N, Mei H.

Orphanet J Rare Dis. 2019 Sep 18;14(1):221. doi: 10.1186/s13023-019-1196-0.

PubMed [citation]
PMID:
31533797
PMCID:
PMC6751843

Details of each submission

From The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital, SCV001169705.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Han Chinese1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 28, 2021

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