U.S. flag

An official website of the United States government

NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT AND Neurofibromatosis, type 1

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000200913.3

Allele description [Variation Report for NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT]

NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT

Gene:
NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
NM_001042492.3(NF1):c.3975-1922_4174-2448delinsTTTACTTAGGT
HGVS:
  • NC_000017.11:g.31247062_31255896delinsTTTACTTAGGT
  • NG_009018.1:g.157086_165920delinsTTTACTTAGGT
  • NM_000267.3:c.3975-1922_4111-2448delinsTTTACTTAGGT
  • NM_001042492.3:c.3975-1922_4174-2448delinsTTTACTTAGGTMANE SELECT
  • LRG_214t1:c.3975-1922_4111-2448delinsTTTACTTAGGT
  • LRG_214:g.157086_165920delinsTTTACTTAGGT
  • NC_000017.10:g.29574080_29582914delinsTTTACTTAGGT
Molecular consequence:
  • NM_000267.3:c.3975-1922_4111-2448delinsTTTACTTAGGT - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001042492.3:c.3975-1922_4174-2448delinsTTTACTTAGGT - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_000267.3:c.3975-1922_4111-2448delinsTTTACTTAGGT - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001042492.3:c.3975-1922_4174-2448delinsTTTACTTAGGT - splice donor variant - [Sequence Ontology: SO:0001575]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000255558UAB Medical Genomics Laboratory, UAB Medicine
no assertion criteria provided
Pathogenicde novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Decoding NF1 Intragenic Copy-Number Variations.

Hsiao MC, Piotrowski A, Callens T, Fu C, Wimmer K, Claes KB, Messiaen L.

Am J Hum Genet. 2015 Aug 6;97(2):238-49. doi: 10.1016/j.ajhg.2015.06.002. Epub 2015 Jul 16.

PubMed [citation]
PMID:
26189818
PMCID:
PMC4573439

Details of each submission

From UAB Medical Genomics Laboratory, UAB Medicine, SCV000255558.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providedbloodnot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2024