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NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) AND Neurofibromatosis-Noonan syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 24, 2024
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:
RCV003483615.2

Allele description [Variation Report for NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)]

NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)

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.1246C>T (p.Arg416Ter)
HGVS:
  • NC_000017.11:g.31201471C>T
  • NG_009018.1:g.111495C>T
  • NM_000267.3:c.1246C>T
  • NM_001042492.3:c.1246C>TMANE SELECT
  • NM_001128147.3:c.1246C>T
  • NP_000258.1:p.Arg416Ter
  • NP_001035957.1:p.Arg416Ter
  • NP_001121619.1:p.Arg416Ter
  • LRG_214t1:c.1246C>T
  • LRG_214:g.111495C>T
  • LRG_214p1:p.Arg416Ter
  • NC_000017.10:g.29528489C>T
  • NM_000267.3:c.[1246C>T]
  • NM_001042492.3:c.1246C>T
  • NM_001128147.2:c.1246C>T
  • p.Arg416*
Protein change:
R416*
Links:
dbSNP: rs764079291
NCBI 1000 Genomes Browser:
rs764079291
Molecular consequence:
  • NM_000267.3:c.1246C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001042492.3:c.1246C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001128147.3:c.1246C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Neurofibromatosis-Noonan syndrome (NFNS)
Synonyms:
Neurofibromatosis with Noonan phenotype
Identifiers:
MONDO: MONDO:0011035; MedGen: C2931482; Orphanet: 638; OMIM: 601321

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004232442Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg
criteria provided, single submitter

(Hauer et al. (Genet Med. 2018))		Pathogenic
(Jan 24, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN, Popp B, Schoeller E, Schuhmann S, Heath KE, Hisado-Oliva A, Klinger P, Kraus C, Trautmann U, Zenker M, Zweier C, Wiesener A, Abou Jamra R, Kunstmann E, Wieczorek D, Uebe S, Ferrazzi F, Büttner C, Ekici AB, Rauch A, Sticht H, Dörr HG, et al.

Genet Med. 2018 Jun;20(6):630-638. doi: 10.1038/gim.2017.159. Epub 2017 Oct 12.

PubMed [citation]
PMID:
29758562
PMCID:
PMC5993671

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV004232442.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

This variant has been identified by standard clinical testing. Selected ACMG criteria: Pathogenic (I):PS2;PVS1

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 3, 2024