NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 4, 2023
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:: RCV002316487.10

Allele description [Variation Report for NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser)]

NM_001042492.3(NF1):c.1259A>G (p.Asn420Ser)

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.1259A>G (p.Asn420Ser)

HGVS:

NC_000017.11:g.31201484A>G
NG_009018.1:g.111508A>G
NM_000267.3:c.1259A>G
NM_001042492.3:c.1259A>GMANE SELECT
NM_001128147.3:c.1259A>G
NP_000258.1:p.Asn420Ser
NP_001035957.1:p.Asn420Ser
NP_001121619.1:p.Asn420Ser
LRG_214t1:c.1259A>G
LRG_214:g.111508A>G
LRG_214p1:p.Asn420Ser
NC_000017.10:g.29528502A>G
NM_001042492.3:c.1259A>G

Protein change:

N420S

Links:

dbSNP: rs1555611107

NCBI 1000 Genomes Browser:

rs1555611107

Molecular consequence:

NM_000267.3:c.1259A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042492.3:c.1259A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128147.3:c.1259A>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

Recent activity

Clear Turn Off Turn On

Angiotensin II Type 2 Receptor Blockers
Angiotensin II Type 2 Receptor Blockers
Agents that antagonize the ANGIOTENSIN II TYPE 2 RECEPTOR.<br/>Year introduced: 2011

MeSH
Free Radical Scavengers
Free Radical Scavengers
Substances that eliminate free radicals. Among other effects, they protect PANCREATIC ISLETS against damage by CYTOKINES and prevent myocardial and pulmonary REPERFUSION INJUR...<br/>Year introduced: 1991

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001170839	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 4, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001170839

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 4, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001170839.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.N420S variant (also known as c.1259A>G), located in coding exon 11 of the NF1 gene, results from an A to G substitution at nucleotide position 1259. The asparagine at codon 420 is replaced by serine, 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

ClinVar

Relating variation to medicine