NM_001042492.3(NF1):c.245C>T (p.Ser82Phe) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Dec 5, 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:: RCV000059172.2

Allele description [Variation Report for NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)]

NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.245C>T (p.Ser82Phe)

HGVS:

NC_000017.11:g.31159050C>T
NG_009018.1:g.69074C>T
NM_000267.3:c.245C>T
NM_001042492.3:c.245C>TMANE SELECT
NM_001128147.3:c.245C>T
NP_000258.1:p.Ser82Phe
NP_001035957.1:p.Ser82Phe
NP_001035957.1:p.Ser82Phe
NP_001121619.1:p.Ser82Phe
LRG_214t1:c.245C>T
LRG_214t2:c.245C>T
LRG_214:g.69074C>T
LRG_214p1:p.Ser82Phe
LRG_214p2:p.Ser82Phe
NC_000017.10:g.29486068C>T
NM_001042492.2:c.245C>T
P21359:p.Ser82Phe

Protein change:

S82F

Links:

UniProtKB: P21359#VAR_021730; UniProtKB/Swiss-Prot: VAR_021730; dbSNP: rs199474729

NCBI 1000 Genomes Browser:

rs199474729

Molecular consequence:

NM_000267.3:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001042492.3:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001128147.3:c.245C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000090701	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]
SCV000808256	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Dec 5, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000090701

UniProtKB/Swiss-Prot

no classification provided

not provided

PubMed (1)
[See all records that cite this PMID]

SCV000808256

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Dec 5, 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
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.

Kluwe L, Friedrich RE, Korf B, Fahsold R, Mautner VF.

Hum Mutat. 2002 Mar;19(3):309.

PubMed [citation]

PMID:: 11857752

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090701.1

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

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

From GeneDx, SCV000808256.2

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

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 16944272, 24803665, 28776573, 11857752, 35584348)

#	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: Sep 29, 2024

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