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NM_001042492.3(NF1):c.3509A>T (p.His1170Leu) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 8, 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:
RCV002319261.8

Allele description [Variation Report for NM_001042492.3(NF1):c.3509A>T (p.His1170Leu)]

NM_001042492.3(NF1):c.3509A>T (p.His1170Leu)

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.3509A>T (p.His1170Leu)
HGVS:
  • NC_000017.11:g.31233014A>T
  • NG_009018.1:g.143038A>T
  • NM_000267.3:c.3509A>T
  • NM_001042492.3:c.3509A>TMANE SELECT
  • NP_000258.1:p.His1170Leu
  • NP_001035957.1:p.His1170Leu
  • LRG_214t1:c.3509A>T
  • LRG_214:g.143038A>T
  • LRG_214p1:p.His1170Leu
  • NC_000017.10:g.29560032A>T
Protein change:
H1170L
Links:
dbSNP: rs1597719889
NCBI 1000 Genomes Browser:
rs1597719889
Molecular consequence:
  • NM_000267.3:c.3509A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.3509A>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV001181966Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(May 8, 2018) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Neurofibromatosis type 1: a single center's experience in Korea.

Kim MJ, Cheon CK.

Korean J Pediatr. 2014 Sep;57(9):410-5. doi: 10.3345/kjp.2014.57.9.410. Epub 2014 Sep 30.

PubMed [citation]
PMID:
25324867
PMCID:
PMC4198956

Details of each submission

From Ambry Genetics, SCV001181966.3

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

Description

The p.H1170L variant (also known as c.3509A>T), located in coding exon 27 of the NF1 gene, results from an A to T substitution at nucleotide position 3509. The histidine at codon 1170 is replaced by leucine, an amino acid with similar properties. This alteration has been reported in an individual with neurofibromatosis 1 (Kim MJ et al. Korean J Pediatr, 2014 Sep;57:410-5). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024