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NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 10, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001009584.9

Allele description [Variation Report for NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])]

NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
HGVS:
  • NC_000017.11:g.31343099AACTTT[1]
  • NG_009018.1:g.253123AACTTT[1]
  • NM_000267.3:c.7090AACTTT[1]
  • NM_000267.3:c.7096_7101del
  • NM_001042492.3:c.7153AACTTT[1]MANE SELECT
  • NP_000258.1:p.2364NF[1]
  • NP_001035957.1:p.2385NF[1]
  • LRG_214t1:c.7090AACTTT[1]
  • LRG_214:g.253123AACTTT[1]
  • LRG_214p1:p.2364NF[1]
  • NC_000017.10:g.29670116_29670121del
  • NC_000017.10:g.29670117AACTTT[1]
  • NM_000267.3:c.7096_7101del
  • NM_000267.3:c.7096_7101delAACTTT
  • NM_001042492.2:c.7159_7164del
  • NM_001042492.2:c.7159_7164del6
  • NM_001042492.3:c.7153AACTTT[1]
Links:
dbSNP: rs864622639
NCBI 1000 Genomes Browser:
rs864622639
Molecular consequence:
  • NM_000267.3:c.7090AACTTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042492.3:c.7153AACTTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001169685The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Nov 10, 2018) 		paternalresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Han Chinesepaternalyes1not 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, SCV001169685.1

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

Last Updated: Oct 26, 2024