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NM_000138.5(FBN1):c.2854+1G>T AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 11, 2017
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:
RCV000521571.1

Allele description [Variation Report for NM_000138.5(FBN1):c.2854+1G>T]

NM_000138.5(FBN1):c.2854+1G>T

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.2854+1G>T
HGVS:
  • NC_000015.10:g.48492460C>A
  • NG_008805.2:g.158329G>T
  • NM_000138.5:c.2854+1G>TMANE SELECT
  • NM_001406716.1:c.2854+1G>T
  • LRG_778t1:c.2854+1G>T
  • LRG_778:g.158329G>T
  • NC_000015.9:g.48784657C>A
  • NM_000138.4:c.2854+1G>T
Links:
dbSNP: rs112809590
NCBI 1000 Genomes Browser:
rs112809590
Molecular consequence:
  • NM_000138.5:c.2854+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406716.1:c.2854+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000621261GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Oct 11, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000621261.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2854+1 G>T pathogenic variant in the FBN1 gene has been reported in an adult male with a clinical diagnosis of Marfan syndrome and no known family history of the disorder (Tiecke et al., 2001). This variant destroys the canonical splice donor site in intron 24 and is predicted to cause abnormal gene splicing. However, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. Multiple other splicing variants in the FBN1 gene have been reported in HGMD in association with Marfan syndrome, including a different nucleotide change at the same canonical splice site (c.2854+1 G>A) (Stenson et al., 2014). Furthermore, the c.2854+1 G>T variant is not observed in large population cohorts (Lek et al., 2016).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024