NM_001042492.3(NF1):c.7160A>G (p.Asn2387Ser) 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:: RCV002367304.2

Allele description [Variation Report for NM_001042492.3(NF1):c.7160A>G (p.Asn2387Ser)]

NM_001042492.3(NF1):c.7160A>G (p.Asn2387Ser)

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.7160A>G (p.Asn2387Ser)

HGVS:

NC_000017.11:g.31343106A>G
NG_009018.1:g.253130A>G
NM_000267.3:c.7097A>G
NM_001042492.3:c.7160A>GMANE SELECT
NP_000258.1:p.Asn2366Ser
NP_001035957.1:p.Asn2387Ser
NP_001035957.1:p.Asn2387Ser
LRG_214t1:c.7097A>G
LRG_214t2:c.7160A>G
LRG_214:g.253130A>G
LRG_214p1:p.Asn2366Ser
LRG_214p2:p.Asn2387Ser
NC_000017.10:g.29670124A>G
NM_001042492.2:c.7160A>G

Protein change:

N2366S

Molecular consequence:

NM_000267.3:c.7097A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042492.3:c.7160A>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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002662586	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 12, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002662586

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 12, 2022)

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, SCV002662586.2

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

Description

The p.N2366S variant (also known as c.7097A>G), located in coding exon 47 of the NF1 gene, results from an A to G substitution at nucleotide position 7097. The asparagine at codon 2366 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. 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: Sep 29, 2024

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