NM_001042492.3(NF1):c.6886_6903del (p.Ile2296_Leu2301del) AND Neurofibromatosis, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 15, 2020
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:: RCV001299663.4

Allele description [Variation Report for NM_001042492.3(NF1):c.6886_6903del (p.Ile2296_Leu2301del)]

NM_001042492.3(NF1):c.6886_6903del (p.Ile2296_Leu2301del)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.6886_6903del (p.Ile2296_Leu2301del)

HGVS:

NC_000017.11:g.31338770_31338787del
NG_009018.1:g.248794_248811del
NM_000267.3:c.6823_6840del
NM_001042492.3:c.6886_6903delMANE SELECT
NP_000258.1:p.Ile2275_Leu2280del
NP_001035957.1:p.Ile2296_Leu2301del
LRG_214t1:c.6823_6840del
LRG_214:g.248794_248811del
LRG_214p1:p.Ile2275_Leu2280del
NC_000017.10:g.29665786_29665803del
NC_000017.10:g.29665788_29665805del

Links:

dbSNP: rs2069744859

NCBI 1000 Genomes Browser:

rs2069744859

Molecular consequence:

NM_000267.3:c.6823_6840del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001042492.3:c.6886_6903del - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Recent activity

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Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA
Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA
gi|142384271|ref|NM_178829.3|

Nucleotide
RecName: Full=Insulin-like growth factor I; Short=IGF-I; AltName: Full=Somatomed...
RecName: Full=Insulin-like growth factor I; Short=IGF-I; AltName: Full=Somatomedin; Flags: Precursor
gi|55976406|sp|Q6GUL6.2|IGF1_PANTA

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001488765	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 15, 2020)	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

SCV001488765

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 15, 2020)

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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001488765.3

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with NF1-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.6823_6840del, results in the deletion of 6 amino acid(s) of the NF1 protein (p.Ile2275_Leu2280del), but otherwise preserves the integrity of the reading frame.

#	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: Sep 29, 2024

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