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NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp) AND Marfan syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 6, 2019
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:
RCV000984075.1

Allele description [Variation Report for NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp)]

NM_000138.5(FBN1):c.6885T>G (p.Cys2295Trp)

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.6885T>G (p.Cys2295Trp)
HGVS:
  • NC_000015.10:g.48428458A>C
  • NG_008805.2:g.222331T>G
  • NM_000138.5:c.6885T>GMANE SELECT
  • NP_000129.3:p.Cys2295Trp
  • NP_000129.3:p.Cys2295Trp
  • LRG_778t1:c.6885T>G
  • LRG_778:g.222331T>G
  • LRG_778p1:p.Cys2295Trp
  • NC_000015.9:g.48720655A>C
  • NM_000138.4:c.6885T>G
Protein change:
C2295W
Links:
dbSNP: rs1480832655
NCBI 1000 Genomes Browser:
rs1480832655
Molecular consequence:
  • NM_000138.5:c.6885T>G - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000986999Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University
no assertion criteria provided
Likely pathogenic
(Jun 6, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.

Mannucci L, Luciano S, Salehi LB, Gigante L, Conte C, Longo G, Ferradini V, Piumelli N, Brancati F, Ruvolo G, Novelli G, Sangiuolo F.

Clin Chim Acta. 2020 Feb;501:154-164. doi: 10.1016/j.cca.2019.10.037. Epub 2019 Nov 12.

PubMed [citation]
PMID:
31730815

Details of each submission

From Sangiuolo Lab - Medical Genetics Laboratory, Tor Vergata University, SCV000986999.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022