NM_003242.5(TGFBR2):c.1471_1482delGTGTTGAGAGAT (p.Val491_Asp494del) AND Marfan's syndrome

Clinical significance:Likely pathogenic (Last evaluated: Jan 28, 2011)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000036640.1

Allele description [Variation Report for NM_003242.5(TGFBR2):c.1471_1482delGTGTTGAGAGAT (p.Val491_Asp494del)]

NM_003242.5(TGFBR2):c.1471_1482delGTGTTGAGAGAT (p.Val491_Asp494del)

Gene:
TGFBR2:transforming growth factor, beta receptor II (70/80kDa) [Gene - OMIM]
Variant type:
Deletion
Cytogenetic location:
3p24.1
Genomic location:
Preferred name:
NM_003242.5(TGFBR2):c.1471_1482delGTGTTGAGAGAT (p.Val491_Asp494del)
HGVS:
  • NC_000003.12:g.30688458_30688469delGTGTTGAGAGAT
  • NG_007490.1:g.86957_86968delGTGTTGAGAGAT
  • NM_001024847.2:c.1546_1557delGTGTTGAGAGAT
  • NM_003242.5:c.1471_1482delGTGTTGAGAGAT
  • NP_001020018.1:p.Val516_Asp519del
  • NP_003233.4:p.Val491_Asp494del
  • NC_000003.11:g.30729950_30729961delGTGTTGAGAGAT
  • NM_001024847.2:c.1546_1557del
  • c.1546_1557del
Links:
dbSNP: 397516493
NCBI 1000 Genomes Browser:
rs397516493
Molecular consequence:
  • NM_001024847.2:c.1546_1557delGTGTTGAGAGAT - inframe_variant - [Sequence Ontology: SO:0001650]
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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000060295Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
(LMM Criteria)
probably pathogenic
(Jan 28, 2011)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000060295.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The 1546_1557del (Thr516_Glu519del) variant has not previously been reported in the literature or in public databases. This variant has been shown to have occurred de novo in one affected individual in our laboratory, suggesting that this variant is pathogenic. This variant is an in-frame deletion in the last exon of TGFBR2 which removes four amino acids.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providedassert pathogenicitynot providednot providednot providednot provided

Last Updated: Jul 24, 2015