NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Nov 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000252929.2

Allele description [Variation Report for NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys)]

NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys)

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.8257G>A (p.Glu2753Lys)
HGVS:
  • NC_000005.10:g.128261843C>T
  • NG_008750.1:g.281201G>A
  • NM_001999.4:c.8257G>AMANE SELECT
  • NP_001990.2:p.Glu2753Lys
  • NC_000005.9:g.127597535C>T
  • NM_001999.3:c.8257G>A
  • p.E2753K
Protein change:
E2753K
Links:
dbSNP: rs146781484
NCBI 1000 Genomes Browser:
rs146781484
Molecular consequence:
  • NM_001999.4:c.8257G>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
SCV000319392Ambry Geneticscriteria provided, single submitter
Likely benign
(Nov 28, 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, SCV000319392.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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

Last Updated: Oct 24, 2021

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