NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jun 9, 2021)

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:
RCV000998425.4

Allele description [Variation Report for NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)]

NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)

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.8376C>G (p.Ile2792Met)
HGVS:
  • NC_000005.10:g.128259818G>C
  • NG_008750.1:g.283226C>G
  • NM_001999.4:c.8376C>GMANE SELECT
  • NP_001990.2:p.Ile2792Met
  • NC_000005.9:g.127595510G>C
  • NM_001999.3:c.8376C>G
Protein change:
I2792M
Links:
dbSNP: rs142747169
NCBI 1000 Genomes Browser:
rs142747169
Molecular consequence:
  • NM_001999.4:c.8376C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001154500CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(Jul 1, 2018)
germlineclinical testing

Citation Link,

SCV001872840GeneDxcriteria provided, single submitter
Uncertain significance
(Jun 9, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001154500.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001872840.1

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

Description

Reported in an adult male with aortic anuerysm, tall stature, and stroke in the context of a patent foramen ovale; however, this individual also harbored a missense variant in the SMAD3 gene that the authors felt was responsible for his phenotype (Richter et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; Does not affect a cysteine residue within a calcium-binding EGF-like domain of the FBN2 gene; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN2-related disease (Collod-Beroud et al., 2003; Frdric et al., 2009); Reported in ClinVar as both a likely benign variant and as a variant of uncertain significance (ClinVar Variant ID# 350759; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 31096651, 26582918)

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

Last Updated: Oct 8, 2021

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