NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs) AND multiple conditions

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:
RCV001003807.1

Allele description [Variation Report for NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs)]

NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs)

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs)
HGVS:
  • NC_000017.11:g.31226615_31226629delinsT
  • NG_009018.1:g.136639_136653delinsT
  • NM_000267.3:c.2182_2196delinsT
  • NM_001042492.3:c.2182_2196delinsTMANE SELECT
  • NP_000258.1:p.Val728fs
  • NP_001035957.1:p.Val728fs
  • LRG_214t1:c.2182_2196delinsT
  • LRG_214:g.136639_136653delinsT
  • LRG_214p1:p.Val728fs
  • NC_000017.10:g.29553633_29553647delinsT
  • NM_000267.3:c.2182_2196delGTGCATAACCTCTTGinsT
Protein change:
V728fs
Links:
dbSNP: rs1597712665
NCBI 1000 Genomes Browser:
rs1597712665
Molecular consequence:
  • NM_000267.3:c.2182_2196delinsT - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001042492.3:c.2182_2196delinsT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Juvenile myelomonocytic leukemia (JMML)
Synonyms:
LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
Identifiers:
MONDO: MONDO:0011908; MedGen: C0349639; Orphanet: 86834; OMIM: 607785; Human Phenotype Ontology: HP:0012209
Name:
Neurofibroma
Synonyms:
Neurofibromas; multiple neurofibromas; Neurofibromata
Identifiers:
MONDO: MONDO:0016755; MeSH: D009455; MedGen: C0027830; Human Phenotype Ontology: HP:0001067

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001162256NIHR Bioresource Rare Diseases, University of Cambridgeno assertion criteria providedLikely pathogenicunknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not providedresearch

Citations

PubMed

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, et al.

Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24.

PubMed [citation]
PMID:
32581362
PMCID:
PMC7610553

Details of each submission

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV001162256.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 7, 2021

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