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NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 2024
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:
RCV001703452.5

Allele description [Variation Report for NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)]

NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys)

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.4750G>A (p.Glu1584Lys)
Other names:
p.E1584K:GAG>AAG
HGVS:
  • NC_000015.10:g.48465856C>T
  • NG_008805.2:g.184933G>A
  • NM_000138.5:c.4750G>AMANE SELECT
  • NP_000129.3:p.Glu1584Lys
  • NP_000129.3:p.Glu1584Lys
  • LRG_778t1:c.4750G>A
  • LRG_778:g.184933G>A
  • LRG_778p1:p.Glu1584Lys
  • NC_000015.9:g.48758053C>T
  • NM_000138.4:c.4750G>A
  • c.4750G>A
Protein change:
E1584K
Links:
dbSNP: rs148888513
NCBI 1000 Genomes Browser:
rs148888513
Molecular consequence:
  • NM_000138.5:c.4750G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000233836GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Dec 11, 2024) 		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, SCV000233836.11

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

Description

Identified in a patient with isolated thoracic aortic aneurysm with or without dissection (iTAAD) and in a patient with an inherited connective tissue disorder and eosinophilic esophagitis (PMID: 33824467, 23608731); Reported in two affected relatives from a Columbian family with non-syndromic unilateral cleft lip and palate who underwent exome sequencing (PMID: 27456059); Does not affect a cysteine or calcium-binding residue within an EGF-like domain or a TGF-binding protein domain of the FBN1 gene; cysteine substitutions in the EGF-like domains represent the majority of pathogenic missense changes associated with FBN1-related disorders (PMID: 12938084); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33824467, 23608731, 27456059, 12938084, 33057194, 35982159)

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

Last Updated: Dec 22, 2024