NM_001042492.3(NF1):c.7171del (p.Val2391fs) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 19, 2017
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:: RCV002368157.2

Allele description [Variation Report for NM_001042492.3(NF1):c.7171del (p.Val2391fs)]

NM_001042492.3(NF1):c.7171del (p.Val2391fs)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.7171del (p.Val2391fs)

HGVS:

NC_000017.11:g.31343117del
NG_009018.1:g.253141del
NM_000267.3:c.7108del
NM_001042492.3:c.7171delMANE SELECT
NP_000258.1:p.Val2370fs
NP_001035957.1:p.Val2391fs
LRG_214t1:c.7108del
LRG_214:g.253141del
LRG_214p1:p.Val2370fs
NC_000017.10:g.29670135del
NM_000267.3:c.7108delG
NM_001042492.3:c.7170delGMANE SELECT

Protein change:

V2370fs

Links:

dbSNP: rs2151565274

NCBI 1000 Genomes Browser:

rs2151565274

Molecular consequence:

NM_000267.3:c.7108del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042492.3:c.7171del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002662635	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jun 19, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002662635

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jun 19, 2017)

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 Ambry Genetics, SCV002662635.2

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

Description

The c.7108delG pathogenic mutation, located in coding exon 47 of the NF1 gene, results from a deletion of one nucleotide at nucleotide position 7108, causing a translational frameshift with a predicted alternate stop codon (p.V2370Lfs*5). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, 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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 9, 2024

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