NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs) AND Neurofibromatosis, type 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 12, 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:: RCV000167922.1

Allele description

NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.1783_1784del (p.Glu595fs)

HGVS:

NC_000017.11:g.31223505_31223506del
NG_009018.1:g.133529_133530del
NM_000267.3:c.1783_1784del
NM_001042492.3:c.1783_1784delMANE SELECT
NP_000258.1:p.Glu595fs
NP_001035957.1:p.Glu595fs
LRG_214t1:c.1783_1784del
LRG_214:g.133529_133530del
LRG_214p1:p.Glu595fs
NC_000017.10:g.29550523_29550524del
NC_000017.10:g.29550523_29550524delGA
NM_000267.3:c.1782_1783delAG

Protein change:

E595fs

Links:

dbSNP: rs786204059

NCBI 1000 Genomes Browser:

rs786204059

Molecular consequence:

NM_000267.3:c.1783_1784del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042492.3:c.1783_1784del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Neurofibromatosis, type 1 (NF1)
Synonyms:: NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000218570	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Sep 12, 2014)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000218570

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Sep 12, 2014)

germline

clinical testing

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

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000218570.3

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

Description

This sequence change deletes 2 nucleotides from exon 16 of the NF1 mRNA (c.1782_1783delAG), causing a frameshift at codon 595. This creates a premature translational stop signal (p.Glu595Asnfs*14) and is expected to result in an absent or disrupted protein product. Truncating sequence changes in NF1 are known to be pathogenic. This particular truncation has been reported in the literature in a neurofibromatosis type 1 patient (PMID: 23913538). This sequence change is also known as c.1783_1784delGA in the literature. For these reasons, this sequence change has been classified as 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: Jul 22, 2022

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