NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs) AND Weill-Marchesani syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 29, 2016
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:: RCV000150699.5

Allele description [Variation Report for NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs)]

NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs)

Gene:

FBN1:fibrillin 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_000138.5(FBN1):c.4675_4718del (p.Lys1559fs)

HGVS:

NC_000015.10:g.48467970_48468013del
NG_008805.2:g.182779_182822del
NM_000138.5:c.4675_4718delMANE SELECT
NP_000129.3:p.Lys1559fs
NP_000129.3:p.Lys1559fs
LRG_778t1:c.4675_4718del
LRG_778:g.182779_182822del
LRG_778p1:p.Lys1559fs
NC_000015.9:g.48760167_48760210del
NM_000138.4:c.4675_4718del
p.Lys1559LeufsX2

Protein change:

K1559fs

Links:

dbSNP: rs727503056

NCBI 1000 Genomes Browser:

rs727503056

Observations:

Condition(s)

Name:: Weill-Marchesani syndrome
Synonyms:: WM Syndrome; Mesodermal dysmorphodystrophy congenital
Identifiers:: MONDO: MONDO:0018096; MedGen: C0265313; OMIM: PS277600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000198078	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely pathogenic (Jan 29, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 12068374, 12525539, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000198078

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely pathogenic
(Jan 29, 2016)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

Schrijver I, Liu W, Odom R, Brenn T, Oefner P, Furthmayr H, Francke U.

Am J Hum Genet. 2002 Aug;71(2):223-37. Epub 2002 Jun 14.

PubMed [citation]

PMID:: 12068374
PMCID:: PMC379156

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome.

Faivre L, Gorlin RJ, Wirtz MK, Godfrey M, Dagoneau N, Samples JR, Le Merrer M, Collod-Beroud G, Boileau C, Munnich A, Cormier-Daire V.

J Med Genet. 2003 Jan;40(1):34-6.

PubMed [citation]

PMID:: 12525539
PMCID:: PMC1735272

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000198078.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

proposed classification - variant undergoing re-assessment, contact laboratory

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Mar 30, 2024

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