U.S. flag

An official website of the United States government

NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 12, 2015
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:
RCV000573877.1

Allele description [Variation Report for NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe)]

NM_001042492.3(NF1):c.6837A>C (p.Leu2279Phe)

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.6837A>C (p.Leu2279Phe)
HGVS:
  • NC_000017.11:g.31338721A>C
  • NG_009018.1:g.248745A>C
  • NM_000267.3:c.6774A>C
  • NM_001042492.3:c.6837A>CMANE SELECT
  • NP_000258.1:p.Leu2258Phe
  • NP_001035957.1:p.Leu2279Phe
  • NP_001035957.1:p.Leu2279Phe
  • LRG_214t1:c.6774A>C
  • LRG_214t2:c.6837A>C
  • LRG_214:g.248745A>C
  • LRG_214p1:p.Leu2258Phe
  • LRG_214p2:p.Leu2279Phe
  • NC_000017.10:g.29665739A>C
  • NM_001042492.2:c.6837A>C
  • NM_001042492.3:c.6837A>C
Protein change:
L2258F
Links:
dbSNP: rs144287929
NCBI 1000 Genomes Browser:
rs144287929
Molecular consequence:
  • NM_000267.3:c.6774A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.6837A>C - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000674058Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Nov 12, 2015) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000674058.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.L2279F variant (also known as c.6837A>C), located in coding exon 46 of the NF1 gene, results from an A to C substitution at nucleotide position 6837. The leucine at codon 2279 is replaced by phenylalanine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs144287929. Based on data from the NHLBI Exome Sequencing Project (ESP), the C allele has an overall frequency of approximately 0.01% (1/12998) total alleles studied, having been observed in 0.02% (1/4406) African American alleles. To date, this alteration has been detected with an allele frequency of approximately 0.001% (greater than 110000alleles tested) in our clinical cohort.This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.Since supporting evidence is limited at this time, the clinical significance of p.L2279Fremains unclear.

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

Last Updated: Sep 29, 2024