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NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 17, 2019
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:
RCV002319052.9

Allele description [Variation Report for NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)]

NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr)

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.4235G>C (p.Arg1412Thr)
HGVS:
  • NC_000017.11:g.31258405G>C
  • NG_009018.1:g.168429G>C
  • NM_000267.3:c.4172G>C
  • NM_001042492.3:c.4235G>CMANE SELECT
  • NP_000258.1:p.Arg1391Thr
  • NP_001035957.1:p.Arg1412Thr
  • LRG_214t1:c.4172G>C
  • LRG_214:g.168429G>C
  • LRG_214p1:p.Arg1391Thr
  • NC_000017.10:g.29585423G>C
Protein change:
R1391T
Links:
dbSNP: rs1555618516
NCBI 1000 Genomes Browser:
rs1555618516
Molecular consequence:
  • NM_000267.3:c.4172G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.4235G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001183675Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 17, 2019) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV001183675.4

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

Description

The p.R1391T variant (also known as c.4172G>C), located in coding exon 31 of the NF1 gene, results from a G to C substitution at nucleotide position 4172. The arginine at codon 1391 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. This alteration has been identified in multiple individuals with neurofibromatosis or suspected of having neurofibromatosis (van Minkelen R et al. Clin. Genet., 2014 Apr;85:318-27). (Evans DG et al. EBioMedicine, 2016 May;7:212-20). (Xu W et al. Int. J. Mol. Med., 2014 Jul;34:53-60). Two additional disease-causing mutations, p.R1391G and p.R1391S, have been described in the same codon. Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 1, 2024