NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu) AND Cardiovascular phenotype

Clinical significance:Likely benign (Last evaluated: Mar 13, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000620447.1

Allele description [Variation Report for NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu)]

NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu)

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.7418G>T (p.Arg2473Leu)
HGVS:
  • NC_000005.10:g.128277933C>A
  • NG_008750.1:g.265111G>T
  • NM_001999.4:c.7418G>TMANE SELECT
  • NP_001990.2:p.Arg2473Leu
  • NC_000005.9:g.127613625C>A
  • NM_001999.3:c.7418G>T
  • p.R2473L
Protein change:
R2473L
Links:
dbSNP: rs28763925
NCBI 1000 Genomes Browser:
rs28763925
Molecular consequence:
  • NM_001999.4:c.7418G>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
SCV000738977Ambry Geneticscriteria provided, single submitter
Likely benign
(Mar 13, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.

Wooderchak-Donahue W, VanSant-Webb C, Tvrdik T, Plant P, Lewis T, Stocks J, Raney JA, Meyers L, Berg A, Rope AF, Yetman AT, Bleyl SB, Mesley R, Bull DA, Collins RT, Ojeda MM, Roberts A, Lacro R, Woerner A, Stoler J, Bayrak-Toydemir P.

Am J Med Genet A. 2015 Aug;167A(8):1747-57. doi: 10.1002/ajmg.a.37085. Epub 2015 May 5.

PubMed [citation]
PMID:
25944730

Details of each submission

From Ambry Genetics, SCV000738977.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Subpopulation frequency in support of benign classification

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

Last Updated: Sep 29, 2021

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