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NM_001042492.3(NF1):c.40G>T (p.Val14Phe) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 12, 2022
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:
RCV002324487.2

Allele description [Variation Report for NM_001042492.3(NF1):c.40G>T (p.Val14Phe)]

NM_001042492.3(NF1):c.40G>T (p.Val14Phe)

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.40G>T (p.Val14Phe)
HGVS:
  • NC_000017.11:g.31095349G>T
  • NG_009018.1:g.5373G>T
  • NG_056197.1:g.1845G>T
  • NG_056197.2:g.1845G>T
  • NM_000267.3:c.40G>T
  • NM_001042492.3:c.40G>TMANE SELECT
  • NM_001128147.3:c.40G>T
  • NP_000258.1:p.Val14Phe
  • NP_001035957.1:p.Val14Phe
  • NP_001035957.1:p.Val14Phe
  • NP_001121619.1:p.Val14Phe
  • LRG_214t1:c.40G>T
  • LRG_214t2:c.40G>T
  • LRG_214:g.5373G>T
  • LRG_214p1:p.Val14Phe
  • LRG_214p2:p.Val14Phe
  • NC_000017.10:g.29422367G>T
  • NM_001042492.2:c.40G>T
  • NR_186435.1:n.142C>A
Protein change:
V14F
Links:
dbSNP: rs2143145306
NCBI 1000 Genomes Browser:
rs2143145306
Molecular consequence:
  • NM_000267.3:c.40G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.40G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128147.3:c.40G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_186435.1:n.142C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Hereditary neoplastic syndrome; 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
SCV002632379Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 12, 2022) 		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, SCV002632379.2

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

Description

The p.V14F variant (also known as c.40G>T), located in coding exon 1 of the NF1 gene, results from a G to T substitution at nucleotide position 40. The valine at codon 14 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Jun 22, 2025