NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) AND not specified

Clinical significance:Likely benign (Last evaluated: Apr 25, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000196293.5

Allele description [Variation Report for NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)]

NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)

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.6841A>T (p.Ile2281Phe)
HGVS:
  • NC_000005.10:g.128287347T>A
  • NG_008750.1:g.255697A>T
  • NM_001999.4:c.6841A>TMANE SELECT
  • NP_001990.2:p.Ile2281Phe
  • NC_000005.9:g.127623039T>A
  • NM_001999.3:c.6841A>T
  • p.I2281F
Protein change:
I2281F
Links:
dbSNP: rs115223340
NCBI 1000 Genomes Browser:
rs115223340
Molecular consequence:
  • NM_001999.4:c.6841A>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
SCV000250127GeneDxcriteria provided, single submitter
Likely benign
(Aug 22, 2017)
germlineclinical testing

Citation Link,

SCV000885446ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(Apr 25, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000250127.8

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000885446.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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