U.S. flag

An official website of the United States government

NM_000138.5(FBN1):c.4210+1G>A AND FBN1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 30, 2022
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:
RCV004535021.2

Allele description [Variation Report for NM_000138.5(FBN1):c.4210+1G>A]

NM_000138.5(FBN1):c.4210+1G>A

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.4210+1G>A
HGVS:
  • NC_000015.10:g.48474254C>T
  • NG_008805.2:g.176535G>A
  • NM_000138.5:c.4210+1G>AMANE SELECT
  • NM_001406716.1:c.4210+1G>A
  • LRG_778t1:c.4210+1G>A
  • LRG_778:g.176535G>A
  • NC_000015.9:g.48766451C>T
  • NM_000138.4:c.4210+1G>A
Links:
dbSNP: rs730880106
NCBI 1000 Genomes Browser:
rs730880106
Molecular consequence:
  • NM_000138.5:c.4210+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001406716.1:c.4210+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
FBN1-related disorder
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004107915PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 30, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004107915.1

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

Description

The FBN1 c.4210+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This variant has previously been reported to be causative for Marfan syndrome (Baudhuin et al 2015. PubMed ID: 25652356; Becerra-Muñoz VM et al 2018. PubMed ID: 29357934; Li J et al 2019. PubMed ID: 31098894; Hernándiz A et al 2020. PubMed ID: 33174221; Chen S et al 2021. PubMed ID: 34957211). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Variants that disrupt the consensus splice donor site in FBN1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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

Last Updated: Nov 10, 2024