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

Clinical significance:Likely benign (Last evaluated: May 24, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000247632.2

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]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000318326Ambry Geneticscriteria provided, single submitter
Likely benign
(May 24, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000318326.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Subpopulation frequency in support of benign classification

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 6, 2021

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