NM_000138.4(FBN1):c.7094G>A (p.Cys2365Tyr) AND Marfan's syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jan 12, 2010)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000035264.2

Allele description [Variation Report for NM_000138.4(FBN1):c.7094G>A (p.Cys2365Tyr)]

NM_000138.4(FBN1):c.7094G>A (p.Cys2365Tyr)

Gene:
FBN1:fibrillin 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.4(FBN1):c.7094G>A (p.Cys2365Tyr)
HGVS:
  • NC_000015.10:g.48427677C>T
  • NG_008805.2:g.223112G>A
  • NM_000138.4:c.7094G>A
  • NP_000129.3:p.Cys2365Tyr
  • NC_000015.9:g.48719874C>T
  • c.7094G>A
Protein change:
C2365Y
Links:
dbSNP: 397515845
NCBI 1000 Genomes Browser:
rs397515845
Molecular consequence:
  • NM_000138.4:c.7094G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Marfan's syndrome (MFS)
Synonyms:
MARFAN SYNDROME, TYPE I; Marfan syndrome, classic; Marfan syndrome
Identifiers:
MedGen: C0024796; Orphanet: 558; OMIM: 154700
Prevalence:
1-5 / 10 000 558

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058911Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
(LMM Criteria)
Likely pathogenic
(Jan 12, 2010)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

Tjeldhorn L, Rand-Hendriksen S, Gervin K, Brandal K, Inderhaug E, Geiran O, Paus B.

Genet Test. 2006 Winter;10(4):258-64. Erratum in: Genet Test. 2007 Winter;11(4):480.

PubMed [citation]
PMID:
17253931

Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.

Rand-Hendriksen S, Tjeldhorn L, Lundby R, Semb SO, Offstad J, Andersen K, Geiran O, Paus B.

Am J Med Genet A. 2007 Sep 1;143A(17):1968-77.

PubMed [citation]
PMID:
17663468
See all PubMed Citations (4)

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000058911.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jun 27, 2015