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NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs) AND Marfan syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 18, 2013
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:
RCV000155914.4

Allele description [Variation Report for NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs)]

NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs)

Gene:
FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs)
HGVS:
  • NC_000015.10:g.48411340_48411341delinsTCCT
  • NG_008805.2:g.239448_239449delinsAGGA
  • NM_000138.5:c.8265_8266delinsAGGAMANE SELECT
  • NP_000129.3:p.Ser2755fs
  • LRG_778:g.239448_239449delinsAGGA
  • NC_000015.9:g.48703537_48703538delinsTCCT
  • p.Ser2755ArgfsX25
Protein change:
S2755fs
Links:
dbSNP: rs727504651
NCBI 1000 Genomes Browser:
rs727504651
Molecular consequence:
  • NM_000138.5:c.8265_8266delinsAGGA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

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
SCV000205625Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Pathogenic
(Jul 18, 2013) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, Mass General Brigham Personalized Medicine, SCV000205625.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The Ser2755fs variant in FBN1 has not been reported in the literature or in larg e population studies. This frameshift variant is predicted to alter the protein? s amino acid sequence beginning at position 2755 and lead to a premature termina tion codon 25 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of function of t he FBN1 gene is an established disease mechanism in Marfan syndrome. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.pa rtners.org/LMM).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2022