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NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly) AND not specified

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 13, 2018
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:
RCV001000953.8

Allele description [Variation Report for NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly)]

NM_001042492.3(NF1):c.7895A>G (p.Asp2632Gly)

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.7895A>G (p.Asp2632Gly)
HGVS:
  • NC_000017.11:g.31357294A>G
  • NG_009018.1:g.267318A>G
  • NM_000267.3:c.7832A>G
  • NM_001042492.3:c.7895A>GMANE SELECT
  • NP_000258.1:p.Asp2611Gly
  • NP_001035957.1:p.Asp2632Gly
  • LRG_214t1:c.7832A>G
  • LRG_214:g.267318A>G
  • LRG_214p1:p.Asp2611Gly
  • NC_000017.10:g.29684312A>G
Protein change:
D2611G
Links:
dbSNP: rs1597866846
NCBI 1000 Genomes Browser:
rs1597866846
Molecular consequence:
  • NM_000267.3:c.7832A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001042492.3:c.7895A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001158052ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Likely pathogenic
(Dec 13, 2018) 		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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001158052.1

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

Description

The NF1 c.7895A>G; p.Asp2632Gly variant (also reported as c.7832A>G for NM_000267.3) is reported in the literature in an individual with neurofibromatosis 1 (Sabbagh 2013). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. Sabbagh et al. performed cDNA sequencing of the reversely transcribed mRNA. The c.7895A>G variant resulted in skipping of exon 54, leading to an out of frame protein product (Sabbagh 2013). Based on the Sabbagh 2013 published results, this variant is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered likely pathogenic. REFERENCES Sabbagh A et al. NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. Hum Mutat. 2013 Nov;34(11):1510-8.

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

Last Updated: Dec 30, 2023