NM_001042492.3(NF1):c.6082G>A (p.Ala2028Thr) AND Hereditary cancer-predisposing syndrome

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Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 12, 2017
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:: RCV000566979.1

Allele description

NM_001042492.3(NF1):c.6082G>A (p.Ala2028Thr)

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.6082G>A (p.Ala2028Thr)

HGVS:

NC_000017.11:g.31336408G>A
NG_009018.1:g.246432G>A
NM_000267.3:c.6019G>A
NM_001042492.3:c.6082G>AMANE SELECT
NP_000258.1:p.Ala2007Thr
NP_001035957.1:p.Ala2028Thr
LRG_214t1:c.6019G>A
LRG_214:g.246432G>A
LRG_214p1:p.Ala2007Thr
NC_000017.10:g.29663426G>A
NM_001042492.3:c.6082G>A

Protein change:

A2007T

Links:

dbSNP: rs767869530

NCBI 1000 Genomes Browser:

rs767869530

Molecular consequence:

NM_000267.3:c.6019G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042492.3:c.6082G>A - 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
SCV000663252	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (3/2017))	Uncertain significance (May 12, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000663252

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))

Uncertain significance
(May 12, 2017)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000663252.3

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

Description

The p.A2007T variant (also known as c.6019G>A), located in coding exon 40 of the NF1 gene, results from a G to A substitution at nucleotide position 6019. The alanine at codon 2007 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious 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	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 23, 2022

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