NM_000267.3(NF1):c.7491C>G (p.Ala2497=) AND not provided

Clinical significance:Uncertain significance (Last evaluated: May 31, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000267.3(NF1):c.7491C>G (p.Ala2497=)]

NM_000267.3(NF1):c.7491C>G (p.Ala2497=)

NF1:neurofibromin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000267.3(NF1):c.7491C>G (p.Ala2497=)
  • NC_000017.11:g.31352353C>G
  • NG_009018.1:g.262377C>G
  • NM_000267.3:c.7491C>G
  • NM_001042492.2:c.7554C>G
  • NP_000258.1:p.Ala2497=
  • NP_001035957.1:p.Ala2518=
  • LRG_214t1:c.7491C>G
  • LRG_214t2:c.7554C>G
  • LRG_214:g.262377C>G
  • LRG_214p1:p.Ala2497=
  • LRG_214p2:p.Ala2518=
  • NC_000017.10:g.29679371C>G
  • p.A2518A
dbSNP: rs141897690
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000267.3:c.7491C>G - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001042492.2:c.7554C>G - synonymous variant - [Sequence Ontology: SO:0001819]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000533038GeneDxcriteria provided, single submitter
Uncertain significance
(May 31, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000533038.5

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


This variant is denoted NF1 c.7491C>G at the DNA level. This variant is silent at the coding level, preserving an Alanine at codon 2497. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. In silico splicing models are uninformative; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. NF1 c.7491C>G was observed at an allele frequency of 0.06% (6/10,390) in individuals of African ancestry in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). The nucleotide which is altered, a cytosine (C) at base 7491, is not conserved. Based on currently available information, it is unclear whether NF1 c.7491C>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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

Last Updated: Jun 14, 2021

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