NM_001999.4(FBN2):c.7058G>A (p.Arg2353His) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 26, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001001161.1

Allele description [Variation Report for NM_001999.4(FBN2):c.7058G>A (p.Arg2353His)]

NM_001999.4(FBN2):c.7058G>A (p.Arg2353His)

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.7058G>A (p.Arg2353His)
HGVS:
  • NC_000005.10:g.128280272C>T
  • NG_008750.1:g.262772G>A
  • NM_001999.4:c.7058G>AMANE SELECT
  • NP_001990.2:p.Arg2353His
  • NC_000005.9:g.127615964C>T
  • NM_001999.3:c.7058G>A
Protein change:
R2353H
Links:
dbSNP: rs775905979
NCBI 1000 Genomes Browser:
rs775905979
Molecular consequence:
  • NM_001999.4:c.7058G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001158312ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Mar 26, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001158312.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The FBN2 c.7058G>A; p.Arg2353His variant (rs775905979), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 411818). This variant is only observed on 3 out of 250,820 allele in the Genome Aggregation Database, indicating it is not a common polymorphism. The arginine at codon 2353 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg2353His variant is uncertain at this time.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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