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NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys) AND NF1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 2023
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:
RCV004553045.2

Allele description [Variation Report for NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)]

NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)

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.5488C>T (p.Arg1830Cys)
HGVS:
  • NC_000017.11:g.31327718C>T
  • NG_009018.1:g.237742C>T
  • NM_000267.3:c.5425C>T
  • NM_001042492.3:c.5488C>TMANE SELECT
  • NP_000258.1:p.Arg1809Cys
  • NP_001035957.1:p.Arg1830Cys
  • LRG_214t1:c.5425C>T
  • LRG_214:g.237742C>T
  • LRG_214p1:p.Arg1809Cys
  • NC_000017.10:g.29654736C>T
  • NM_001042492.2:c.5488C>T
  • NM_001042492.3:c.5488C>T
Protein change:
R1809C
Links:
dbSNP: rs797045139
NCBI 1000 Genomes Browser:
rs797045139
Molecular consequence:
  • NM_000267.3:c.5425C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.5488C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
NF1-related disorder
Synonyms:
NF1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004119996PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Dec 20, 2023) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004119996.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The NF1 c.5488C>T variant is predicted to result in the amino acid substitution p.Arg1830Cys. This variant has been well documented to be causative for NF1-related disorders in both de novo and familial cases (alternate nomenclature p.Arg1809Cys; Rojnueangnit et al. 2015. PubMed ID: 26178382; Ekvall et al. 2014. PubMed ID: 24357598; Bianchessi et al. 2015. PubMed ID: 26740943; Santoro et al. 2015. PubMed ID: 25966637; Pinna et al. 2015. PubMed ID: 25370043). Functional studies and familial segregation data both support its pathogenicity (Wallis et al. 2018. PubMed ID: 29522274; Long et al. 2022. PubMed ID: 34694046; Rojnueangnit et al. 2015. PubMed ID: 26178382). This variant has not been reported in a large population database, indicating this variant is rare. In ClinVar, this variant has been interpreted as pathogenic (https://www.ncbi.nlm.nih.gov/clinvar/variation/208853/). This variant is interpreted as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024