NM_001042492.3(NF1):c.7158dup (p.Asn2387Ter) AND Neurofibromatosis, type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 31, 2022
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:: RCV001943811.4

Allele description [Variation Report for NM_001042492.3(NF1):c.7158dup (p.Asn2387Ter)]

NM_001042492.3(NF1):c.7158dup (p.Asn2387Ter)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.7158dup (p.Asn2387Ter)

HGVS:

NC_000017.11:g.31343104dup
NG_009018.1:g.253128dup
NM_000267.3:c.7095dup
NM_001042492.3:c.7158dupMANE SELECT
NP_000258.1:p.Asn2366Ter
NP_001035957.1:p.Asn2387Ter
LRG_214t1:c.7095dup
LRG_214:g.253128dup
LRG_214p1:p.Asn2366Ter
NC_000017.10:g.29670119_29670120insT
NC_000017.10:g.29670122dup

Protein change:

N2366*

Links:

dbSNP: rs1597851420

NCBI 1000 Genomes Browser:

rs1597851420

Molecular consequence:

NM_000267.3:c.7095dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001042492.3:c.7158dup - nonsense - [Sequence Ontology: SO:0001587]

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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CBSW7638.b1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8909152 5',...
CBSW7638.b1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8909152 5', mRNA sequence
gi|133765783|gnl|dbEST|45198973|gb| 033.1|

Nucleotide
CBSW1328.g1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8903877 3',...
CBSW1328.g1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8903877 3', mRNA sequence
gi|133755959|gnl|dbEST|45189479|gb| 539.1|

Nucleotide
CBSW3822.g1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8905702 3',...
CBSW3822.g1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8905702 3', mRNA sequence
gi|133759650|gnl|dbEST|45192845|gb| 905.1|

Nucleotide
CBSW1541.b1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8904075 5',...
CBSW1541.b1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8904075 5', mRNA sequence
gi|133756376|gnl|dbEST|45189824|gb| 884.1|

Nucleotide
CBSW5718.b1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8907616 5',...
CBSW5718.b1 NICHD_XGC_tropTail_m Xenopus tropicalis cDNA clone IMAGE:8907616 5', mRNA sequence
gi|133763005|gnl|dbEST|45196198|gb| 258.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002196224	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Mar 31, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 18546366, 21520333, 10712197, 23913538, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002196224

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Mar 31, 2022)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

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

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.

Pros E, Gómez C, Martín T, Fábregas P, Serra E, Lázaro C.

Hum Mutat. 2008 Sep;29(9):E173-93. doi: 10.1002/humu.20826.

PubMed [citation]

PMID:: 18546366

LOVD v.2.0: the next generation in gene variant databases.

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT.

Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22.

PubMed [citation]

PMID:: 21520333

See all PubMed Citations (5)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002196224.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with neurofibromatosis, type 1 (PMID: 18546366, 21520333). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn2366*) in the NF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NF1 are known to be pathogenic (PMID: 10712197, 23913538).

#	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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