NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) AND not specified

Clinical significance:Benign (Last evaluated: Dec 7, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000604815.3

Allele description [Variation Report for NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)]

NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)
HGVS:
  • NC_000017.11:g.31265253A>G
  • NG_009018.1:g.175277A>G
  • NM_000267.3:c.4686A>G
  • NM_001042492.2:c.4749A>G
  • NM_001042492.3:c.4749A>GMANE SELECT
  • NP_000258.1:p.Glu1562=
  • NP_001035957.1:p.Glu1583=
  • NP_001035957.1:p.Glu1583=
  • LRG_214t1:c.4686A>G
  • LRG_214t2:c.4749A>G
  • LRG_214:g.175277A>G
  • LRG_214p1:p.Glu1562=
  • LRG_214p2:p.Glu1583=
  • NC_000017.10:g.29592271A>G
  • p.E1583E
Links:
dbSNP: rs144091165
NCBI 1000 Genomes Browser:
rs144091165
Molecular consequence:
  • NM_000267.3:c.4686A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042492.2:c.4749A>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042492.3:c.4749A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001362230Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(Dec 7, 2019)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Nf1 and Gmcsf interact in myeloid leukemogenesis.

Birnbaum RA, O'Marcaigh A, Wardak Z, Zhang YY, Dranoff G, Jacks T, Clapp DW, Shannon KM.

Mol Cell. 2000 Jan;5(1):189-95.

PubMed [citation]
PMID:
10678181

Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia.

Boudry-Labis E, Roche-Lestienne C, Nibourel O, Boissel N, Terre C, Perot C, Eclache V, Gachard N, Tigaud I, Plessis G, Cuccuini W, Geffroy S, Villenet C, Figeac M, LeprĂȘtre F, Renneville A, Cheok M, Soulier J, Dombret H, Preudhomme C; French ALFA group..

Am J Hematol. 2013 Apr;88(4):306-11. doi: 10.1002/ajh.23403. Epub 2013 Mar 5.

PubMed [citation]
PMID:
23460398
See all PubMed Citations (4)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001362230.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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