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NM_001042492.3(NF1):c.587-3C>G AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 2016
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:
RCV000564927.1

Allele description

NM_001042492.3(NF1):c.587-3C>G

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.587-3C>G
HGVS:
  • NC_000017.11:g.31181419C>G
  • NG_009018.1:g.91443C>G
  • NM_000267.3:c.587-3C>G
  • NM_001042492.3:c.587-3C>GMANE SELECT
  • NM_001128147.3:c.587-3C>G
  • LRG_214t1:c.587-3C>G
  • LRG_214:g.91443C>G
  • NC_000017.10:g.29508437C>G
Links:
dbSNP: rs375188075
NCBI 1000 Genomes Browser:
rs375188075
Molecular consequence:
  • NM_000267.3:c.587-3C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042492.3:c.587-3C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128147.3:c.587-3C>G - intron variant - [Sequence Ontology: SO:0001627]
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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000666801Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Dec 22, 2016) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients.

Park VM, Pivnick EK.

J Med Genet. 1998 Oct;35(10):813-20.

PubMed [citation]
PMID:
9783703
PMCID:
PMC1051455

Details of each submission

From Ambry Genetics, SCV000666801.3

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

Description

The c.587-3C>G intronic variant results from a C to G substitution 3 nucleotides upstream from coding exon 6 in the NF1 gene. A similar alteration at the same nucleotide position, c.587-3C>A, has been described an an NF1 patient meeting NIH criteria with cafe-au-lait spots, freckling, plexiform neurofibroma and a positive family history of NF1. The c.587-3C>A alteration was shown to cause exon 6 skipping (Park VM et al. J. Med. Genet., 1998 Oct;35:813-20). This nucleotide position is well conserved in available vertebrate species. Using two different splice site prediction tools, this alteration is predicted by BDGP to abolish the native splice acceptor site, and is predicted to weaken (but not abolish) the efficiency of the native splice acceptor site by ESEfinder; however, direct evidence is unavailable. 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 23, 2022