NM_001999.4(FBN2):c.5800+5G>A AND not provided

Clinical significance:Uncertain significance (Last evaluated: Apr 16, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000766976.1

Allele description [Variation Report for NM_001999.4(FBN2):c.5800+5G>A]

NM_001999.4(FBN2):c.5800+5G>A

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.5800+5G>A
HGVS:
  • NC_000005.10:g.128304952C>T
  • NG_008750.1:g.238092G>A
  • NM_001999.4:c.5800+5G>AMANE SELECT
  • NC_000005.9:g.127640644C>T
  • NM_001999.3:c.5800+5G>A
Links:
dbSNP: rs375487064
NCBI 1000 Genomes Browser:
rs375487064
Molecular consequence:
  • NM_001999.4:c.5800+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000250288GeneDxcriteria provided, single submitter
Uncertain significance
(Apr 16, 2018)
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, SCV000250288.14

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

Description

The c.5800+5G>A variant in the FBN2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, it has been observed in multiple unrelated individuals tested for aortic aneurysm or dissection at GeneDx. The c.5800+5G>A substitution occurs at a nucleotide position that is conserved across species. This variant reduces the quality of the splice donor site in intron 45, and is expected to cause abnormal gene splicing. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Furthermore, although other splice site variants in the FBN2 gene have been reported in the Human Gene Mutation Database in association with FBN2-related disorders, no splice site variants have been reported downstream of the c.5800+5 G>A variant (Stenson et al., 2014). The c.5800+5G>A variant is observed in 12/111,450 alleles (0.011%) from individuals of non-Finnish European background, and 16/245,894 global alleles (0.0065%), in large population cohorts (Lek et al., 2016). We therefore interpret c.5800+5G>A as a variant of uncertain significance.

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

Last Updated: Oct 8, 2021

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