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NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) AND FBN1-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 2023
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV004534961.2

Allele description [Variation Report for NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)]

NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)

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.7540G>A (p.Gly2514Arg)
Other names:
NM_000138.5(FBN1):c.7540G>A
HGVS:
  • NC_000015.10:g.48421982C>T
  • NG_008805.2:g.228807G>A
  • NM_000138.5:c.7540G>AMANE SELECT
  • NP_000129.3:p.Gly2514Arg
  • NP_000129.3:p.Gly2514Arg
  • LRG_778t1:c.7540G>A
  • LRG_778:g.228807G>A
  • LRG_778p1:p.Gly2514Arg
  • NC_000015.9:g.48714179C>T
  • NM_000138.4:c.7540G>A
Protein change:
G2514R
Links:
dbSNP: rs363811
NCBI 1000 Genomes Browser:
rs363811
Molecular consequence:
  • NM_000138.5:c.7540G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
FBN1-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004717449PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Dec 20, 2023) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004717449.2

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

Description

The FBN1 c.7540G>A variant is predicted to result in the amino acid substitution p.Gly2514Arg. This variant was reported in multiple individuals with Marfan syndrome (see for example - Ng et al. 2002. PubMed ID: 11875032; Guo et al. 2015. PubMed ID: 26272055; Gezdirici et al. 2021. PubMed ID: 33483584). This variant has not been reported in a large population database, indicating this variant is rare. In ClinVar, this variant has been interpreted as pathogenic by multiple laboratories including the ClinGen FBN1 Variant Curation Expert Panel (https://www.ncbi.nlm.nih.gov/clinvar/variation/178034/). This variant is interpreted as pathogenic.

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

Last Updated: Jan 19, 2025