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NM_001042492.3(NF1):c.2342A>C (p.His781Pro) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2015
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:
RCV000218636.1

Allele description [Variation Report for NM_001042492.3(NF1):c.2342A>C (p.His781Pro)]

NM_001042492.3(NF1):c.2342A>C (p.His781Pro)

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.2342A>C (p.His781Pro)
HGVS:
  • NC_000017.11:g.31227539A>C
  • NG_009018.1:g.137563A>C
  • NM_000267.3:c.2342A>C
  • NM_001042492.3:c.2342A>CMANE SELECT
  • NP_000258.1:p.His781Pro
  • NP_001035957.1:p.His781Pro
  • NP_001035957.1:p.His781Pro
  • LRG_214t1:c.2342A>C
  • LRG_214t2:c.2342A>C
  • LRG_214:g.137563A>C
  • LRG_214p1:p.His781Pro
  • LRG_214p2:p.His781Pro
  • NC_000017.10:g.29554557A>C
  • NM_001042492.2:c.2342A>C
  • P21359:p.His781Pro
Protein change:
H781P
Links:
UniProtKB: P21359#VAR_021745; UniProtKB/Swiss-Prot: VAR_021745; dbSNP: rs199474763
NCBI 1000 Genomes Browser:
rs199474763
Molecular consequence:
  • NM_000267.3:c.2342A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.2342A>C - 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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000277163Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Uncertain significance
(Jul 14, 2015) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000277163.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.H781P variant (also known as c.2342A>C), located in coding exon 20 of the NF1 gene, results from an A to C substitution at nucleotide position 2342. The histidine at codon 781 is replaced by proline, an amino acid with similar properties.This variant was previouslyidentified in one patient with aclinicaldiagnosis ofNF1(Fahsold, R et al.Am J Hum Genet. 2000 Mar;66(3):790-818). This variant was previously reported in the SNPDatabase as rs199474763. This variant was not reported in population-based cohorts in the following databases: NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project.To date, this alteration has been detected with an allele frequency of approximately 0.002% (greater than 55,000alleles tested) in our clinical cohort.This amino acid position is well 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 p.H781P remains unclear.

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

Last Updated: Feb 28, 2024