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NM_001042492.3(NF1):c.6921+1G>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 11, 2019
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:
RCV001558427.2

Allele description [Variation Report for NM_001042492.3(NF1):c.6921+1G>A]

NM_001042492.3(NF1):c.6921+1G>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.6921+1G>A
HGVS:
  • NC_000017.11:g.31338806G>A
  • NG_009018.1:g.248830G>A
  • NM_000267.3:c.6858+1G>A
  • NM_001042492.3:c.6921+1G>AMANE SELECT
  • LRG_214t1:c.6858+1G>A
  • LRG_214t2:c.6921+1G>A
  • LRG_214:g.248830G>A
  • NC_000017.10:g.29665824G>A
  • NM_001042492.2:c.6921+1G>A
  • NM_001042492.3:c.6921+1G>A
Links:
dbSNP: rs1060500355
NCBI 1000 Genomes Browser:
rs1060500355
Molecular consequence:
  • NM_000267.3:c.6858+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001042492.3:c.6921+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001780371GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Mar 11, 2019) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001780371.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Deletions involving coding exons in this gene are frequently reported as pathogenic, regardless of frame prediction (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 24789688, 24232412, 17120035, 21520333, 11735023, 25525159)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024