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NM_001042492.3(NF1):c.58C>T (p.Gln20Ter) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 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:
RCV002352176.2

Allele description [Variation Report for NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)]

NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)

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.58C>T (p.Gln20Ter)
HGVS:
  • NC_000017.11:g.31095367C>T
  • NG_009018.1:g.5391C>T
  • NG_056197.1:g.1863C>T
  • NM_000267.3:c.58C>T
  • NM_001042492.3:c.58C>TMANE SELECT
  • NM_001128147.3:c.58C>T
  • NP_000258.1:p.Gln20Ter
  • NP_001035957.1:p.Gln20Ter
  • NP_001121619.1:p.Gln20Ter
  • LRG_214t1:c.58C>T
  • LRG_214:g.5391C>T
  • LRG_214p1:p.Gln20Ter
  • NC_000017.10:g.29422385C>T
  • NM_001042492.3:c.58C>T
Protein change:
Q20*
Links:
dbSNP: rs1567786905
NCBI 1000 Genomes Browser:
rs1567786905
Molecular consequence:
  • NM_000267.3:c.58C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001042492.3:c.58C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001128147.3:c.58C>T - nonsense - [Sequence Ontology: SO:0001587]

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
Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002652564Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 20, 2021) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002652564.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The p.Q20* pathogenic mutation (also known as c.58C>T), located in coding exon 1 of the NF1 gene, results from a C to T substitution at nucleotide position 58. This changes the amino acid from a glutamine to a stop codon within coding exon 1. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. This alteration has been reported in patients with either clinical diagnosis of or suspicion of Neurofibromatosis type 1 and RNA studies have demonstrated that this alteration results in a deletion of the last 4 nucleotides in exon 1 (Pros E et al. Hum Mutat, 2008 Sep;29:E173-93; Sabbagh A et al. Hum Mutat, 2013 Nov;34:1510-8). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 9, 2024