NM_001042492.3(NF1):c.801G>A (p.Trp267Ter) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 30, 2018
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:: RCV001000935.15

Allele description [Variation Report for NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)]

NM_001042492.3(NF1):c.801G>A (p.Trp267Ter)

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.801G>A (p.Trp267Ter)

HGVS:

NC_000017.11:g.31182578G>A
NG_009018.1:g.92602G>A
NM_000267.3:c.801G>A
NM_001042492.3:c.801G>AMANE SELECT
NM_001128147.3:c.801G>A
NP_000258.1:p.Trp267Ter
NP_001035957.1:p.Trp267Ter
NP_001121619.1:p.Trp267Ter
LRG_214t1:c.801G>A
LRG_214:g.92602G>A
LRG_214p1:p.Trp267Ter
NC_000017.10:g.29509596G>A
NM_001042492.2:c.801G>A
NM_001042492.3:c.801G>A

Protein change:

W267*

Links:

dbSNP: rs1064794273

NCBI 1000 Genomes Browser:

rs1064794273

Molecular consequence:

NM_000267.3:c.801G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001042492.3:c.801G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001128147.3:c.801G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

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
SCV001158033	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process)	Pathogenic (Nov 30, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001158033

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)

Pathogenic
(Nov 30, 2018)

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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158033.1

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

Description

The NF1 c.801G>A; p.Trp267Ter variant is reported in the literature in multiple patients with neurofibromatosis 1 (Gasparini 1996, Fahsold 2000, Wiest 2003, Maertens 2006, Laycock-van Spyk 2011, Sabbagh 2013). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The p.Trp267Ter variant is listed in ClinVar (ClinVar ID 420075). This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, the p.Trp267Ter variant is considered to be pathogenic.

#	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: Jan 13, 2025

ClinVar

Relating variation to medicine