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NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala) AND Marfan syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 7, 2017
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000663908.1

Allele description [Variation Report for NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala)]

NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.6881A>C (p.Glu2294Ala)
HGVS:
  • NC_000015.10:g.48428462T>G
  • NG_008805.2:g.222327A>C
  • NM_000138.5:c.6881A>CMANE SELECT
  • NP_000129.3:p.Glu2294Ala
  • NP_000129.3:p.Glu2294Ala
  • LRG_778t1:c.6881A>C
  • LRG_778:g.222327A>C
  • LRG_778p1:p.Glu2294Ala
  • NC_000015.9:g.48720659T>G
  • NM_000138.4:c.6881A>C
Protein change:
E2294A
Links:
dbSNP: rs1555394647
NCBI 1000 Genomes Browser:
rs1555394647
Molecular consequence:
  • NM_000138.5:c.6881A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000787275Center for Medical Genetics Ghent, University of Ghent
no assertion criteria provided
Likely pathogenic
(Nov 7, 2017) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Center for Medical Genetics Ghent, University of Ghent, SCV000787275.1

#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: Dec 11, 2022