NM_001042492.3(NF1):c.3632T>G (p.Leu1211Arg) AND Neurofibromatosis, type 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 2, 2017
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000497169.1

Allele description [Variation Report for NM_001042492.3(NF1):c.3632T>G (p.Leu1211Arg)]

NM_001042492.3(NF1):c.3632T>G (p.Leu1211Arg)

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.3632T>G (p.Leu1211Arg)

HGVS:

NC_000017.11:g.31233137T>G
NG_009018.1:g.143161T>G
NM_000267.3:c.3632T>G
NM_001042492.3:c.3632T>GMANE SELECT
NP_000258.1:p.Leu1211Arg
NP_001035957.1:p.Leu1211Arg
NP_001035957.1:p.Leu1211Arg
LRG_214t1:c.3632T>G
LRG_214t2:c.3632T>G
LRG_214:g.143161T>G
LRG_214p1:p.Leu1211Arg
LRG_214p2:p.Leu1211Arg
NC_000017.10:g.29560155T>G
NM_001042492.2:c.3632T>G

Protein change:

L1211R

Links:

dbSNP: rs1135402845

NCBI 1000 Genomes Browser:

rs1135402845

Molecular consequence:

NM_000267.3:c.3632T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001042492.3:c.3632T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Neurofibromatosis, type 1 (NF1)
Synonyms:: NEUROFIBROMATOSIS, TYPE I; VON RECKLINGHAUSEN DISEASE; NEUROFIBROMATOSIS, TYPE I, SOMATIC; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000588765	Medical Genetics, University of Parma	no assertion criteria provided	Uncertain significance (Feb 2, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000588765

Medical Genetics, University of Parma

no assertion criteria provided

Uncertain significance
(Feb 2, 2017)

germline

clinical testing

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 Medical Genetics, University of Parma, SCV000588765.1

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

#	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: Jul 5, 2025

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