NM_001042492.3(NF1):c.7063-2A>G AND Neurofibroma

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 29, 2019
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:: RCV000787331.2

Allele description [Variation Report for NM_001042492.3(NF1):c.7063-2A>G]

NM_001042492.3(NF1):c.7063-2A>G

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.7063-2A>G

HGVS:

NC_000017.11:g.31343007A>G
NG_009018.1:g.253031A>G
NM_000267.3:c.7000-2A>G
NM_001042492.3:c.7063-2A>GMANE SELECT
LRG_214t1:c.7000-2A>G
LRG_214t2:c.7063-2A>G
LRG_214:g.253031A>G
NC_000017.10:g.29670025A>G
NM_001042492.2:c.7063-2A>G
NM_001042492.3:c.7063-2A>G

Links:

dbSNP: rs1597851255

NCBI 1000 Genomes Browser:

rs1597851255

Molecular consequence:

NM_000267.3:c.7000-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001042492.3:c.7063-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

Condition(s)

Name:: Neurofibroma
Identifiers:: MONDO: MONDO:0016755; MeSH: D009455; MedGen: C0027830; Human Phenotype Ontology: HP:0001067

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000926273	Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University	no assertion criteria provided	Pathogenic (Jun 29, 2019)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000926273

Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University

no assertion criteria provided

Pathogenic
(Jun 29, 2019)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Chinese Han	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Department of Ophthalmology, Shanghai Ninth people hospital, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University, SCV000926273.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Chinese Han	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine