NM_001999.4(FBN2):c.523T>C (p.Cys175Arg) AND Cardiovascular phenotype

Clinical significance:Likely pathogenic (Last evaluated: May 23, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000254242.1

Allele description [Variation Report for NM_001999.4(FBN2):c.523T>C (p.Cys175Arg)]

NM_001999.4(FBN2):c.523T>C (p.Cys175Arg)

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.523T>C (p.Cys175Arg)
HGVS:
  • NC_000005.10:g.128527881A>G
  • NG_008750.1:g.15162T>C
  • NM_001999.4:c.523T>CMANE SELECT
  • NP_001990.2:p.Cys175Arg
  • NC_000005.9:g.127863574A>G
  • NM_001999.3:c.523T>C
Protein change:
C175R
Links:
dbSNP: rs886038942
NCBI 1000 Genomes Browser:
rs886038942
Molecular consequence:
  • NM_001999.4:c.523T>C - 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
SCV000319272Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(May 23, 2014)
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, SCV000319272.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.C175R variant (also known as c.523T>C), located in coding exon 4 of the FBN2 gene<span style="background-color: initial;">in the EGF-like #3 domain<span style="background-color: initial;">, results from a T to C substitution at nucleotide position 523. The cysteine at codon 175 is replaced by arginine, an amino acid with highly dissimilar 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.<span style="background-color: initial;">In the ESP, this variant was not observed in 6503 samples (13,006 alleles) with coverage at this position.<span style="background-color: initial;">This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis.<span style="background-color: initial;">Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Dec 7, 2020

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