NM_001042492.3(NF1):c.889-21C>A AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 4, 2023
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:: RCV003320780.1

Allele description [Variation Report for NM_001042492.3(NF1):c.889-21C>A]

NM_001042492.3(NF1):c.889-21C>A

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.889-21C>A

HGVS:

NC_000017.11:g.31200401C>A
NG_009018.1:g.110425C>A
NM_000267.3:c.889-21C>A
NM_001042492.3:c.889-21C>AMANE SELECT
NM_001128147.3:c.889-21C>A
LRG_214t1:c.889-21C>A
LRG_214:g.110425C>A
NC_000017.10:g.29527419C>A

Links:

dbSNP: rs753797445

NCBI 1000 Genomes Browser:

rs753797445

Molecular consequence:

NM_000267.3:c.889-21C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001042492.3:c.889-21C>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001128147.3:c.889-21C>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004025579	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 4, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004025579

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 4, 2023)

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, SCV004025579.1

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

Description

Identified in a child referred for genetic testing for NF1 with multiple cafe au lait macules and no other features of NF1 (Wimmer et al., 2020; Koczkowska et al., 2023); Splicing studies demonstrate that the variant results in partial/low-level skipping of the adjacent exon 9 (Wimmer et al., 2020; Koczkowska et al., 2023); In silico analysis supports a deleterious effect on splicing; Also known as IVS6-21 C>A; This variant is associated with the following publications: (PMID: 37186028, 32126153)

#	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: Dec 30, 2023

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