NM_001042492.3(NF1):c.7070A>G (p.Glu2357Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 2, 2014
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:: RCV000166979.1

Allele description [Variation Report for NM_001042492.3(NF1):c.7070A>G (p.Glu2357Gly)]

NM_001042492.3(NF1):c.7070A>G (p.Glu2357Gly)

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.7070A>G (p.Glu2357Gly)

HGVS:

NC_000017.11:g.31343016A>G
NG_009018.1:g.253040A>G
NM_000267.3:c.7007A>G
NM_001042492.3:c.7070A>GMANE SELECT
NP_000258.1:p.Glu2336Gly
NP_001035957.1:p.Glu2357Gly
NP_001035957.1:p.Glu2357Gly
LRG_214t1:c.7007A>G
LRG_214t2:c.7070A>G
LRG_214:g.253040A>G
LRG_214p1:p.Glu2336Gly
LRG_214p2:p.Glu2357Gly
NC_000017.10:g.29670034A>G
NM_001042492.2:c.7070A>G
p.E2357G

Protein change:

E2336G

Links:

dbSNP: rs786203596

NCBI 1000 Genomes Browser:

rs786203596

Molecular consequence:

NM_000267.3:c.7007A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042492.3:c.7070A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000217800	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Uncertain significance (Dec 2, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000217800

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Uncertain significance
(Dec 2, 2014)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.

Han SS, Cooper DN, Upadhyaya MN.

Hum Genet. 2001 Nov;109(5):487-97. Epub 2001 Oct 11.

PubMed [citation]

PMID:: 11735023

Details of each submission

From Ambry Genetics, SCV000217800.4

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

Description

The p.E2357G variant (also known as c.7070A>G), located in coding exon 48 of the NF1 gene, results from an A to G substitution at nucleotide position 7070. The glutamic acid at codon 2357 is replaced by glycine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. To date, this alteration has been detected with an allele frequency of approximately 0.003% (greater than 30000 alleles 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.E2357G remains unclear.

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

Last Updated: Sep 29, 2024

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