NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Apr 19, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000197843.4

Allele description [Variation Report for NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)]

NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)

Gene:
FBN2:fibrillin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q23.3
Genomic location:
Preferred name:
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
HGVS:
  • NC_000005.10:g.128286784T>A
  • NG_008750.1:g.256260A>T
  • NM_001999.4:c.6946A>TMANE SELECT
  • NP_001990.2:p.Ile2316Phe
  • NC_000005.9:g.127622476T>A
  • NM_001999.3:c.6946A>T
  • p.I2316F
Protein change:
I2316F
Links:
dbSNP: rs201220519
NCBI 1000 Genomes Browser:
rs201220519
Molecular consequence:
  • NM_001999.4:c.6946A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000603699ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Apr 19, 2019)
germlineclinical testing

Citation Link

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, SCV000603699.2

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

Description

The p.Ile2316Phe variant (rs201220519) has not been reported in the scientific literature but it is listed in the ClinVar database, where it has been classified by a different laboratory as a variant of uncertain significant (see link below). This variant is listed in the Exome Variant Server at an overall allele frequency of 0.015% (identified in 2 out of 13,006 chromosomes), and in the Exome Aggregation Consortium (ExAC) browser at an overall allele frequency of 0.018% (identified in 22 out of 121,306 chromosomes). The isoleucine at codon 2316 is highly conserved considering 11 species (Alamut software v2.7.1), and computational analyses suggest this variant may have a significant impact on FBN2 protein structure/function (SIFT: damaging, PolyPhen2: probably damaging, MutationTaster: disease causing).

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

Last Updated: Oct 6, 2021

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