NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Dec 1, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000246483.1

Allele description [Variation Report for NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)]

NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)

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.1423G>A (p.Gly475Ser)
HGVS:
  • NC_000005.10:g.128393177C>T
  • NG_008750.1:g.149866G>A
  • NM_001999.4:c.1423G>AMANE SELECT
  • NP_001990.2:p.Gly475Ser
  • NC_000005.9:g.127728870C>T
  • NM_001999.3:c.1423G>A
Protein change:
G475S
Links:
dbSNP: rs200440156
NCBI 1000 Genomes Browser:
rs200440156
Molecular consequence:
  • NM_001999.4:c.1423G>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
SCV000320513Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Dec 1, 2015)
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, SCV000320513.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.G475S variant (also known as c.1423G>A), located in coding exon 10 of the FBN2 gene, results from a G to A substitution at nucleotide position 1423. The glycine at codon 475 is replaced by serine, an amino acid with similar properties. This variant was previously reported in the SNPDatabase as rs200440156. 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 0.86% (1/116) Mexican-American alleles. In population based cohorts in NHLBI ExomeSequencing Project (ESP), this variant was not observed in 6503 samples (13006 alleles) with coverage at this position.This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis.<span style="font-family:arial,sans-serif; font-size:10pt">Since supporting evidence is limited at this time, theclinical significance of this variant remains unclear.

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

Last Updated: Oct 8, 2021

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