NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) AND Cardiovascular phenotype

Clinical significance:Benign (Last evaluated: Jun 22, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000253722.1

Allele description [Variation Report for NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)]

NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)

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.7296G>T (p.Gln2432His)
Other names:
p.Q2432H:CAG>CAT
HGVS:
  • NC_000005.10:g.128278684C>A
  • NG_008750.1:g.264360G>T
  • NM_001999.4:c.7296G>TMANE SELECT
  • NP_001990.2:p.Gln2432His
  • NC_000005.9:g.127614376C>A
  • NM_001999.3:c.7296G>T
Protein change:
Q2432H
Links:
dbSNP: rs34600572
NCBI 1000 Genomes Browser:
rs34600572
Molecular consequence:
  • NM_001999.4:c.7296G>T - 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
SCV000317895Ambry Geneticscriteria provided, single submitter
Benign
(Jun 22, 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, SCV000317895.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene

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

Last Updated: Jun 23, 2021

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