NM_001042492.3(NF1):c.6761G>A (p.Cys2254Tyr) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 15, 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:: RCV003160463.1

Allele description [Variation Report for NM_001042492.3(NF1):c.6761G>A (p.Cys2254Tyr)]

NM_001042492.3(NF1):c.6761G>A (p.Cys2254Tyr)

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.6761G>A (p.Cys2254Tyr)

HGVS:

NC_000017.11:g.31338081G>A
NG_009018.1:g.248105G>A
NM_000267.3:c.6698G>A
NM_001042492.3:c.6761G>AMANE SELECT
NP_000258.1:p.Cys2233Tyr
NP_001035957.1:p.Cys2254Tyr
LRG_214t1:c.6698G>A
LRG_214:g.248105G>A
LRG_214p1:p.Cys2233Tyr
NC_000017.10:g.29665099G>A

Protein change:

C2233Y

Links:

dbSNP: rs1361250850

NCBI 1000 Genomes Browser:

rs1361250850

Molecular consequence:

NM_000267.3:c.6698G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001042492.3:c.6761G>A - 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
SCV003854943	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Mar 15, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003854943

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Mar 15, 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, SCV003854943.1

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

Description

The p.C2233Y variant (also known as c.6698G>A), located in coding exon 44 of the NF1 gene, results from a G to A substitution at nucleotide position 6698. The cysteine at codon 2233 is replaced by tyrosine, an amino acid with highly dissimilar 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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 28, 2024

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