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NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 24, 2024
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:
RCV002315635.9

Allele description [Variation Report for NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])]

NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1])
HGVS:
  • NC_000017.11:g.31343099AACTTT[1]
  • NG_009018.1:g.253123AACTTT[1]
  • NM_000267.3:c.7090AACTTT[1]
  • NM_000267.3:c.7096_7101del
  • NM_001042492.3:c.7153AACTTT[1]MANE SELECT
  • NP_000258.1:p.2364NF[1]
  • NP_001035957.1:p.2385NF[1]
  • LRG_214t1:c.7090AACTTT[1]
  • LRG_214:g.253123AACTTT[1]
  • LRG_214p1:p.2364NF[1]
  • NC_000017.10:g.29670116_29670121del
  • NC_000017.10:g.29670117AACTTT[1]
  • NM_000267.3:c.7096_7101del
  • NM_000267.3:c.7096_7101delAACTTT
  • NM_001042492.2:c.7159_7164del
  • NM_001042492.2:c.7159_7164del6
  • NM_001042492.3:c.7153AACTTT[1]
Links:
dbSNP: rs864622639
NCBI 1000 Genomes Browser:
rs864622639
Molecular consequence:
  • NM_000267.3:c.7090AACTTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001042492.3:c.7153AACTTT[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000663092Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 24, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000663092.5

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

Description

The c.7096_7101delAACTTT (p.N2366_F2367del) alteration, located in coding exon 47 of the NF1 gene, results from an in-frame deletion of 6 nucleotides at positions c.7096 to c.7101. This results in the deletion of 2 amino acids between codons 2366 and 2367. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been reported in in several unrelated individuals with a clinical diagnoses of NF1 and was confirmed as a de novo mutation in one individual with sporadic NF1. This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis (Choi, 2012). Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Oct 26, 2024