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NM_001042492.3(NF1):c.655-12_655-9del AND Neurofibromatosis, type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 20, 2020
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:
RCV001007729.2

Allele description [Variation Report for NM_001042492.3(NF1):c.655-12_655-9del]

NM_001042492.3(NF1):c.655-12_655-9del

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.655-12_655-9del
HGVS:
  • NC_000017.11:g.31181698_31181701del
  • NG_009018.1:g.91722_91725del
  • NM_000267.3:c.655-12_655-9del
  • NM_001042492.3:c.655-12_655-9delMANE SELECT
  • NM_001128147.3:c.655-12_655-9del
  • LRG_214t1:c.655-12_655-9del
  • LRG_214:g.91722_91725del
  • NC_000017.10:g.29508716_29508719del
  • NM_000267.3:c.655-12_655-9delCTTT
Links:
dbSNP: rs1597658505
NCBI 1000 Genomes Browser:
rs1597658505
Molecular consequence:
  • NM_000267.3:c.655-12_655-9del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001042492.3:c.655-12_655-9del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128147.3:c.655-12_655-9del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Neurofibromatosis, type 1 (NF1)
Synonyms:
NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001167402Medical Genomics Laboratory, Department of Genetics UAB
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 20, 2020) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

Wimmer K, Schamschula E, Wernstedt A, Traunfellner P, Amberger A, Zschocke J, Kroisel P, Chen Y, Callens T, Messiaen L.

Hum Mutat. 2020 Jun;41(6):1145-1156. doi: 10.1002/humu.24005. Epub 2020 Mar 11.

PubMed [citation]
PMID:
32126153
PMCID:
PMC7317903

Details of each submission

From Medical Genomics Laboratory, Department of Genetics UAB, SCV001167402.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023