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NM_001042492.3(NF1):c.1252A>G (p.Ile418Val) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 30, 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:
RCV002318930.9

Allele description [Variation Report for NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)]

NM_001042492.3(NF1):c.1252A>G (p.Ile418Val)

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.1252A>G (p.Ile418Val)
HGVS:
  • NC_000017.11:g.31201477A>G
  • NG_009018.1:g.111501A>G
  • NM_000267.3:c.1252A>G
  • NM_001042492.3:c.1252A>GMANE SELECT
  • NM_001128147.3:c.1252A>G
  • NP_000258.1:p.Ile418Val
  • NP_001035957.1:p.Ile418Val
  • NP_001121619.1:p.Ile418Val
  • LRG_214t1:c.1252A>G
  • LRG_214:g.111501A>G
  • LRG_214p1:p.Ile418Val
  • NC_000017.10:g.29528495A>G
  • NC_000017.10:g.29528495A>G
  • NM_001042492.3:c.1252A>G
Protein change:
I418V
Links:
dbSNP: rs1597682898
NCBI 1000 Genomes Browser:
rs1597682898
Molecular consequence:
  • NM_000267.3:c.1252A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.1252A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128147.3:c.1252A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001170767Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 30, 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, SCV001170767.4

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

Description

The p.I418V variant (also known as c.1252A>G), located in coding exon 11 of the NF1 gene, results from an A to G substitution at nucleotide position 1252. The isoleucine at codon 418 is replaced by valine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: Oct 26, 2024