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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 27, 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:
RCV002360904.3

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:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002666627Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 27, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002666627.2

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

Description

The c.7000-2A>G intronic pathogenic mutation results from an A to G substitution two nucleotides upstream from coding exon 47 in the NF1 gene. This mutation has been detected in individuals with a clinical or suspected diagnosis of neurofibromatosis type 1 (Griffiths S et al. Fam. Cancer, 2007;6:21-34; Sabbagh A et al. Hum. Mutat., 2013 Nov;34:1510-8; Ambry internal data). In RNA studies, this variant resulted in skipping of exon 47 and insertion of partial intron 46 (Sabbagh A et al. Hum. Mutat., 2013 Nov;34:1510-8; Ambry internal data). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). In addition, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

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

Last Updated: Sep 29, 2024