NM_001042492.3(NF1):c.889-11_889-6delinsAAATT AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 31, 2022
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:: RCV001551434.4

Allele description [Variation Report for NM_001042492.3(NF1):c.889-11_889-6delinsAAATT]

NM_001042492.3(NF1):c.889-11_889-6delinsAAATT

Gene:

NF1:neurofibromin 1 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

17q11.2

Genomic location:

Preferred name:

NM_001042492.3(NF1):c.889-11_889-6delinsAAATT

HGVS:

NC_000017.11:g.31200411_31200416delinsAAATT
NG_009018.1:g.110435_110440delinsAAATT
NM_000267.3:c.889-11_889-6delinsAAATT
NM_001042492.3:c.889-11_889-6delinsAAATTMANE SELECT
NM_001128147.3:c.889-11_889-6delinsAAATT
LRG_214t1:c.889-11_889-6delinsAAATT
LRG_214:g.110435_110440delinsAAATT
NC_000017.10:g.29527429_29527434delinsAAATT

Links:

dbSNP: rs2143871690

NCBI 1000 Genomes Browser:

rs2143871690

Molecular consequence:

NM_000267.3:c.889-11_889-6delinsAAATT - intron variant - [Sequence Ontology: SO:0001627]
NM_001042492.3:c.889-11_889-6delinsAAATT - intron variant - [Sequence Ontology: SO:0001627]
NM_001128147.3:c.889-11_889-6delinsAAATT - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV001771944	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 31, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001771944

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 31, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001771944.3

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

Description

Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

#	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 1, 2024

ClinVar

Relating variation to medicine