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NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) AND Marfan syndrome, incomplete

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 1, 2014
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:
RCV000148496.4

Allele description [Variation Report for NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)]

NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp)

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.7660C>T (p.Arg2554Trp)
Other names:
p.R2554W:CGG>TGG
HGVS:
  • NC_000015.10:g.48421597G>A
  • NG_008805.2:g.229192C>T
  • NM_000138.5:c.7660C>TMANE SELECT
  • NP_000129.3:p.Arg2554Trp
  • NP_000129.3:p.Arg2554Trp
  • LRG_778t1:c.7660C>T
  • LRG_778:g.229192C>T
  • LRG_778p1:p.Arg2554Trp
  • NC_000015.9:g.48713794G>A
  • NM_000138.4:c.7660C>T
Protein change:
R2554W
Links:
dbSNP: rs369294972
NCBI 1000 Genomes Browser:
rs369294972
Molecular consequence:
  • NM_000138.5:c.7660C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Marfan syndrome, incomplete
Identifiers:
MedGen: CN221598

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000190204CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation
no assertion criteria provided
Uncertain significance
(Jun 1, 2014)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190204.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024