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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000255558	UAB Medical Genomics Laboratory, UAB Medicine	no assertion criteria provided	Pathogenic	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000255558

UAB Medical Genomics Laboratory, UAB Medicine

no assertion criteria provided

Pathogenic

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	blood	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2024

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