NM_001999.4(FBN2):c.2996G>A (p.Arg999His) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Jan 4, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000622213.1

Allele description [Variation Report for NM_001999.4(FBN2):c.2996G>A (p.Arg999His)]

NM_001999.4(FBN2):c.2996G>A (p.Arg999His)

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.2996G>A (p.Arg999His)
HGVS:
  • NC_000005.10:g.128345578C>T
  • NG_008750.1:g.197466G>A
  • NM_001999.4:c.2996G>AMANE SELECT
  • NP_001990.2:p.Arg999His
  • NC_000005.9:g.127681270C>T
  • NM_001999.3:c.2996G>A
  • p.Arg999His
Protein change:
R999H
Links:
dbSNP: rs1342942240
NCBI 1000 Genomes Browser:
rs1342942240
Molecular consequence:
  • NM_001999.4:c.2996G>A - 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
SCV000738949Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jan 4, 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, SCV000738949.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.R999H variant (also known as c.2996G>A), located in coding exon 24 of the FBN2 gene, results from a G to A substitution at nucleotide position 2996. The arginine at codon 999 is replaced by histidine, an amino acid with highly similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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

Last Updated: Jun 14, 2021

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