NM_000138.4(FBN1):c.7540G>A (p.Gly2514Arg)

Variation ID: Help
178034
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000138.4(FBN1):c.7540G>A (p.Gly2514Arg)

Allele ID:
176123
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
  • Chr15: 48421982 (on Assembly GRCh38)
  • Chr15: 48714179 (on Assembly GRCh37)
Protein change:
G2514R
HGVS:
  • NG_008805.2:g.228807G>A
  • NM_000138.4:c.7540G>A
  • NP_000129.3:p.Gly2514Arg
  • NC_000015.10:g.48421982C>T (GRCh38)
  • LRG_778t1:c.7540G>A
  • NC_000015.9:g.48714179C>T (GRCh37)
  • LRG_778p1:p.Gly2514Arg
  • LRG_778:g.228807G>A
Links:
dbSNP: 363811
NCBI 1000 Genomes Browser:
rs363811
Molecular consequence:
NM_000138.4:c.7540G>A: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_000138.4(FBN1):c.7540G>A (p.Gly2514Arg)

GRCh37 Chr15:48714179
Called variantsPotential variants
Sample countno data0 of 40895

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Aug 22, 2013)
criteria provided, single submitter
clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000204397.3
Likely pathogenic
(Sep 15, 2015)
criteria provided, single submitter
clinical testinggermline
    Blueprint GeneticsSCV000263911.1
    Uncertain significance
    (Sep 23, 2015)
    criteria provided, single submitter
    clinical testinggermline
      Ambry Genetics,SCV000319359.1
      Uncertain significance
      (Dec 5, 2016)
      criteria provided, single submitter
      clinical testinggermline
        GeneDxSCV000513006.1
        Uncertain significance
        (Oct 1, 2016)
        criteria provided, single submitter
        clinical testinggermline
          InvitaeSCV000544943.1
          SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
          Total for all submitters13germlinenot providednot provided
          Ambry Genetics,not provided1germlinenot providednot providednot providednot provided
          Blueprint Geneticsnot provided1germlinenot providednot providednot providednot provided
          GeneDxnot providednot providedgermlinenot providednot providednot providedThe G2514R variant of uncertai…Full description
          Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
          Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine11germlinenot providednot providedThe Gly2514Arg variant in FBN1…Full description
          SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

          Last Updated: May 20, 2017