NM_001999.4(FBN2):c.3296G>A (p.Arg1099His) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000242556.2

Allele description [Variation Report for NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)]

NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)

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.3296G>A (p.Arg1099His)
HGVS:
  • NC_000005.10:g.128344432C>T
  • NG_008750.1:g.198612G>A
  • NM_001999.4:c.3296G>AMANE SELECT
  • NP_001990.2:p.Arg1099His
  • NC_000005.9:g.127680124C>T
  • NM_001999.3:c.3296G>A
  • p.R1099H
Protein change:
R1099H
Links:
dbSNP: rs202050092
NCBI 1000 Genomes Browser:
rs202050092
Molecular consequence:
  • NM_001999.4:c.3296G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000317881Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
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, SCV000317881.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R1099H variant (also known as c.3296G>A), located in coding exon 25 of the FBN2 gene, results from a G to A substitution at nucleotide position 3296. The arginine at codon 1099 is replaced by histidine, an amino acid with highly similar properties. This variant was previously reported in the SNPDatabase as rs202050092. Based on data fromExAC, the A allele has an overall frequency less than0.01% (9/106175).Based on data from the 1000 Genomes Project, the A allele has an overall frequency of approximately 0.05% (1/2098) total alleles studied. The highest observed frequency was 0.51% (1/196) Tuscan alleles. Based on data from the NHLBI Exome Sequencing Project (ESP), the A allele has an overall frequency of approximately 0.01% (1/13006) total alleles studied and 0.01% (1/8600) European American alleles. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive.Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2021

Support Center