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NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 2016
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:
RCV000562995.1

Allele description [Variation Report for NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)]

NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys)

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.5741C>A (p.Thr1914Lys)
HGVS:
  • NC_000017.11:g.31330427C>A
  • NG_009018.1:g.240451C>A
  • NM_000267.3:c.5678C>A
  • NM_001042492.3:c.5741C>AMANE SELECT
  • NP_000258.1:p.Thr1893Lys
  • NP_001035957.1:p.Thr1914Lys
  • NP_001035957.1:p.Thr1914Lys
  • LRG_214t1:c.5678C>A
  • LRG_214t2:c.5741C>A
  • LRG_214:g.240451C>A
  • LRG_214p1:p.Thr1893Lys
  • LRG_214p2:p.Thr1914Lys
  • NC_000017.10:g.29657445C>A
  • NM_001042492.2:c.5741C>A
  • NM_001042492.3:c.5741C>A
Protein change:
T1893K
Links:
dbSNP: rs1555533873
NCBI 1000 Genomes Browser:
rs1555533873
Molecular consequence:
  • NM_000267.3:c.5678C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.5741C>A - missense variant - [Sequence Ontology: SO:0001583]
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
SCV000666689Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Feb 1, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000666689.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.T1914K variant (also known as c.5741C>A), located in coding exon 39 of the NF1 gene, results from a C to A substitution at nucleotide position 5741. The threonine at codon 1914 is replaced by lysine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position.To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 110000 alleles tested) in our clinical cohort. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis.Since supporting evidence is limited at this time, the clinical significance of this alterationremains unclear.

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

Last Updated: Jul 23, 2024