NM_001042492.3(NF1):c.28_34del (p.Val10fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 20, 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:: RCV002441586.1

Allele description [Variation Report for NM_001042492.3(NF1):c.28_34del (p.Val10fs)]

NM_001042492.3(NF1):c.28_34del (p.Val10fs)

Genes:

MIR4733HG:MIR4733 host gene [Gene - HGNC]
LOC111811965:NF1 (neurofibromin 1) promoter region [Gene]
NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.28_34del (p.Val10fs)

HGVS:

NC_000017.11:g.31095337_31095343del
NG_009018.1:g.5361_5367del
NG_056197.1:g.1833_1839del
NM_000267.3:c.28_34del
NM_001042492.3:c.28_34delMANE SELECT
NM_001128147.3:c.28_34del
NP_000258.1:p.Val10fs
NP_001035957.1:p.Val10Profs
NP_001035957.1:p.Val10fs
NP_001121619.1:p.Val10fs
LRG_214t1:c.28_34del
LRG_214t2:c.28_34del
LRG_214:g.5361_5367del
LRG_214p1:p.Val10fs
LRG_214p2:p.Val10Profs
NC_000017.10:g.29422355_29422361del
NM_000267.3:c.28_34delGTCCAGG
NM_001042492.2:c.28_34delGTCCAGG

Protein change:

V10fs

Molecular consequence:

NM_000267.3:c.28_34del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042492.3:c.28_34del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001128147.3:c.28_34del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV002745773	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Pathogenic (Aug 20, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002745773

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Pathogenic
(Aug 20, 2020)

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	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002745773.1

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

Description

The c.28_34delGTCCAGG pathogenic mutation, located in coding exon 1 of the NF1 gene, results from a deletion of 7 nucleotides at nucleotide positions 28 to 34, causing a translational frameshift with a predicted alternate stop codon (p.V10Pfs*12). The predicted stop codon occurs within the first 150 nucleotides of theNF1 gene. This alteration may escape nonsense-mediated mRNAdecay and/or be rescued by re-initiation (Rivas et al. Science. 2015 May 8;348(6235):666-9; Lindeboom et al. Nat Genet. 2016 Oct;48(10):1112-8; Rhee et al. Sci Rep. 2017 May 10;7(1):1653). However, the impacted region is critical for protein function (Ambry internal data). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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