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NM_001042492.3(NF1):c.1250_1251insTT (p.Ile418fs) AND Neurofibromatosis, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 3, 2021
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:
RCV001374595.2

Allele description [Variation Report for NM_001042492.3(NF1):c.1250_1251insTT (p.Ile418fs)]

NM_001042492.3(NF1):c.1250_1251insTT (p.Ile418fs)

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.1250_1251insTT (p.Ile418fs)
HGVS:
  • NC_000017.11:g.31201475_31201476insTT
  • NG_009018.1:g.111499_111500insTT
  • NM_000267.3:c.1250_1251insTT
  • NM_001042492.3:c.1250_1251insTTMANE SELECT
  • NM_001128147.3:c.1250_1251insTT
  • NP_000258.1:p.Ile418fs
  • NP_001035957.1:p.Ile418fs
  • NP_001121619.1:p.Ile418fs
  • LRG_214t1:c.1250_1251insTT
  • LRG_214:g.111499_111500insTT
  • LRG_214p1:p.Ile418fs
  • NC_000017.10:g.29528493_29528494insTT
Protein change:
I418fs
Links:
dbSNP: rs2143886864
NCBI 1000 Genomes Browser:
rs2143886864
Molecular consequence:
  • NM_000267.3:c.1250_1251insTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042492.3:c.1250_1251insTT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001128147.3:c.1250_1251insTT - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001571436Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Feb 3, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Japanesegermlineyes1not 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 Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, SCV001571436.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Japanese1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 7, 2024