NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) AND Marfan syndrome

Clinical significance:Likely pathogenic (Last evaluated: Nov 7, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000663695.1

Allele description [Variation Report for NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys)]

NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys)
Other names:
p.E1366K:GAA>AAA
HGVS:
  • NC_000015.10:g.48474369C>T
  • NG_008805.2:g.176420G>A
  • NM_000138.4:c.4096G>A
  • NP_000129.3:p.Glu1366Lys
  • LRG_778t1:c.4096G>A
  • LRG_778:g.176420G>A
  • LRG_778p1:p.Glu1366Lys
  • NC_000015.9:g.48766566C>T
Protein change:
E1366K
Links:
dbSNP: rs763449629
NCBI 1000 Genomes Browser:
rs763449629
Molecular consequence:
  • NM_000138.4:c.4096G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Marfan syndrome (MFS)
Synonyms:
MARFAN SYNDROME, TYPE I; Marfanoid hypermobility syndrome; Marfan syndrome type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000787027Center for Medical Genetics Ghent,University of Ghentno assertion criteria providedLikely pathogenic
(Nov 7, 2017)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From Center for Medical Genetics Ghent,University of Ghent, SCV000787027.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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