NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Mar 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)]

NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)

FBN1:fibrillin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr)
  • NC_000015.10:g.48444546C>T
  • NG_008805.2:g.206243G>A
  • NM_000138.4:c.6032G>A
  • NM_000138.5:c.6032G>AMANE SELECT
  • NP_000129.3:p.Cys2011Tyr
  • NP_000129.3:p.Cys2011Tyr
  • LRG_778t1:c.6032G>A
  • LRG_778:g.206243G>A
  • LRG_778p1:p.Cys2011Tyr
  • NC_000015.9:g.48736743C>T
Protein change:
dbSNP: rs886038967
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_000138.4:c.6032G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000138.5:c.6032G>A - missense variant - [Sequence Ontology: SO:0001583]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000490525GeneDxcriteria provided, single submitter
Likely pathogenic
(Mar 28, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000490525.2

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


Affects a cysteine residue within a calcium-binding EGF-like domain of the FBN1 gene, which may affect disulfide bonding and is predicted to alter the structure and function of the protein; cysteine substitutions in the calcium-binding EGF-like domains represent the majority of pathogenic missense changes associated with FBN1 related disorders (Collod-Beroud et al., 2003).; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Oct 25, 2021

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