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NM_001042492.3(NF1):c.55G>T (p.Glu19Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 11, 2014
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:
RCV000166554.1

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]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000217356Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Pathogenic
(Nov 11, 2014) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kücükceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nürnberg P.

Am J Hum Genet. 2000 Mar;66(3):790-818.

PubMed [citation]
PMID:
10712197
PMCID:
PMC1288164

Details of each submission

From Ambry Genetics, SCV000217356.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.E19* pathogenic mutation (also known as c.55G>T) located in coding exon 1 of the NF1 gene, results from a G to T substitution at nucleotide position 55. This changes the amino acid from a glutamic acid to a stop codon within coding exon 1. This mutation has been detected in one individual with a clinical diagnosis of neurofibromatosis type 1 (Fahsold R, Am. J. Hum. Genet. 2000 Mar;66(3):790-818). Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Mar 10, 2024