NM_001999.4(FBN2):c.488A>G (p.His163Arg) AND Cardiovascular phenotype

Clinical significance:Uncertain significance (Last evaluated: Feb 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000621536.1

Allele description [Variation Report for NM_001999.4(FBN2):c.488A>G (p.His163Arg)]

NM_001999.4(FBN2):c.488A>G (p.His163Arg)

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.488A>G (p.His163Arg)
HGVS:
  • NC_000005.10:g.128527916T>C
  • NG_008750.1:g.15127A>G
  • NM_001999.4:c.488A>GMANE SELECT
  • NP_001990.2:p.His163Arg
  • NC_000005.9:g.127863609T>C
  • NM_001999.3:c.488A>G
Protein change:
H163R
Links:
dbSNP: rs1029299660
NCBI 1000 Genomes Browser:
rs1029299660
Molecular consequence:
  • NM_001999.4:c.488A>G - 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
SCV000739003Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Feb 13, 2017)
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, SCV000739003.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.H163R variant (also known as c.488A>G), located in coding exon 4 of the FBN2 gene, results from an A to G substitution at nucleotide position 488, and is located in an EGF-like domain. The histidine at codon 163 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. 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: Feb 27, 2021

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