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NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
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:
RCV003883138.1

Allele description [Variation Report for NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)]

NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)

Genes:
MIR4733HG:MIR4733 host gene [Gene - HGNC]
LOC111811965:NF1 (neurofibromin 1) promoter region [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.55G>T (p.Glu19Ter)
HGVS:
  • NC_000017.11:g.31095364G>T
  • NG_009018.1:g.5388G>T
  • NG_056197.1:g.1860G>T
  • NM_000267.3:c.55G>T
  • NM_001042492.3:c.55G>TMANE SELECT
  • NM_001128147.3:c.55G>T
  • NP_000258.1:p.Glu19Ter
  • NP_001035957.1:p.Glu19Ter
  • NP_001035957.1:p.Glu19Ter
  • NP_001121619.1:p.Glu19Ter
  • LRG_214t1:c.55G>T
  • LRG_214t2:c.55G>T
  • LRG_214:g.5388G>T
  • LRG_214p1:p.Glu19Ter
  • LRG_214p2:p.Glu19Ter
  • NC_000017.10:g.29422382G>T
  • NM_001042492.2:c.55G>T
  • NM_001042492.3:c.55G>T
  • p.E19*
Protein change:
E19*
Links:
dbSNP: rs786203307
NCBI 1000 Genomes Browser:
rs786203307
Molecular consequence:
  • NM_000267.3:c.55G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001042492.3:c.55G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001128147.3:c.55G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Neurofibromatosis, familial spinal (FSNF)
Identifiers:
MONDO: MONDO:0008078; MedGen: C1834235; Orphanet: 636; OMIM: 162210
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:
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:
Neurofibromatosis-Noonan syndrome (NFNS)
Synonyms:
Neurofibromatosis with Noonan phenotype
Identifiers:
MONDO: MONDO:0011035; MedGen: C2931482; Orphanet: 638; OMIM: 601321
Name:
Café-au-lait macules with pulmonary stenosis (WTSN)
Synonyms:
Pulmonic stenosis with cafe-au-lait spots
Identifiers:
MONDO: MONDO:0008672; MedGen: C0553586; OMIM: 193520

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004697686Molecular Genetics Lab, CHRU Brest
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenicpaternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot providednot 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 Molecular Genetics Lab, CHRU Brest, SCV004697686.1

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

Last Updated: Sep 29, 2024