NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 10, 2018
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:: RCV001009595.7

Allele description [Variation Report for NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)]

NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)

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.4600C>T (p.Arg1534Ter)

HGVS:

NC_000017.11:g.31261733C>T
NG_009018.1:g.171757C>T
NM_000267.3:c.4537C>T
NM_001042492.3:c.4600C>TMANE SELECT
NP_000258.1:p.Arg1513Ter
NP_001035957.1:p.Arg1534Ter
NP_001035957.1:p.Arg1534Ter
LRG_214t1:c.4537C>T
LRG_214t2:c.4600C>T
LRG_214:g.171757C>T
LRG_214p1:p.Arg1513Ter
LRG_214p2:p.Arg1534Ter
NC_000017.10:g.29588751C>T
NM_001042492.2:c.4600C>T
NM_001042492.3:c.4600C>T
p.Arg1513*

Protein change:

R1513*

Links:

dbSNP: rs760703505

NCBI 1000 Genomes Browser:

rs760703505

Molecular consequence:

NM_000267.3:c.4537C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001042492.3:c.4600C>T - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

protein truncation [Variation Ontology: 0015]

Condition(s)

Name:: Neurofibromatosis, type 1 (NF1)
Synonyms:: NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200

Name:: Tibial pseudarthrosis
Identifiers:: MedGen: C4024216; Human Phenotype Ontology: HP:0009736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001169696	The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 10, 2018)	paternal	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 31533797

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001169696

The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 10, 2018)

paternal

research

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Han Chinese	paternal	yes	1	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.

Zhu G, Zheng Y, Liu Y, Yan A, Hu Z, Yang Y, Xiang S, Li L, Chen W, Peng Y, Zhong N, Mei H.

Orphanet J Rare Dis. 2019 Sep 18;14(1):221. doi: 10.1186/s13023-019-1196-0.

PubMed [citation]

PMID:: 31533797
PMCID:: PMC6751843

Details of each submission

From The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital, SCV001169696.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Han Chinese	1	not provided	not provided	research	PubMed (2)

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

Last Updated: May 12, 2024

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