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NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) AND Marfan syndrome

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Mar 1, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000663730.2

Allele description [Variation Report for NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)]

NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala)

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.4460A>C (p.Asp1487Ala)
HGVS:
  • NC_000015.10:g.48468534T>G
  • NG_008805.2:g.182255A>C
  • NM_000138.5:c.4460A>CMANE SELECT
  • NP_000129.3:p.Asp1487Ala
  • NP_000129.3:p.Asp1487Ala
  • LRG_778t1:c.4460A>C
  • LRG_778:g.182255A>C
  • LRG_778p1:p.Asp1487Ala
  • NC_000015.9:g.48760731T>G
  • NM_000138.4:c.4460A>C
Protein change:
D1487A
Links:
dbSNP: rs1555397216
NCBI 1000 Genomes Browser:
rs1555397216
Molecular consequence:
  • NM_000138.5:c.4460A>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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000787067Center for Medical Genetics Ghent, University of Ghent
no assertion criteria provided
Uncertain significance
(Nov 7, 2017) 		germlineclinical testing

SCV002025319Centre of Medical Genetics, University of Antwerp
criteria provided, single submitter

(Submitter's publication)		Likely pathogenic
(Mar 1, 2021) 		unknownresearch

Citation Link

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Summary from all submissions

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

Details of each submission

From Center for Medical Genetics Ghent, University of Ghent, SCV000787067.1

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

From Centre of Medical Genetics, University of Antwerp, SCV002025319.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

PM2, PS6, PP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024