NM_001042492.3(NF1):c.3232dup (p.Ser1078fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 21, 2023
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:: RCV004727081.1

Allele description [Variation Report for NM_001042492.3(NF1):c.3232dup (p.Ser1078fs)]

NM_001042492.3(NF1):c.3232dup (p.Ser1078fs)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.3232dup (p.Ser1078fs)

HGVS:

NC_000017.11:g.31232107dup
NG_009018.1:g.142131dup
NM_000267.3:c.3232dup
NM_001042492.3:c.3232dupMANE SELECT
NP_000258.1:p.Ser1078fs
NP_001035957.1:p.Ser1078fs
LRG_214t1:c.3232dup
LRG_214:g.142131dup
LRG_214p1:p.Ser1078fs
NC_000017.10:g.29559122_29559123insT
NC_000017.10:g.29559125dup
NM_000267.3:c.3232dup
NM_000267.3:c.3232dupT
NM_001042492.2:c.3232dupT

Protein change:

S1078fs

Links:

dbSNP: rs2151433720

NCBI 1000 Genomes Browser:

rs2151433720

Molecular consequence:

NM_000267.3:c.3232dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001042492.3:c.3232dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005332572	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005332572

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Aug 21, 2023)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV005332572.1

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

Description

Frameshift variant predicted to result in protein truncation [or nonsense mediated decay] in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28873162, 34308366)

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

Last Updated: Nov 24, 2024

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