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NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 23, 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:
RCV002526401.2

Allele description [Variation Report for NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)]

NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg)

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.2722T>C (p.Cys908Arg)
HGVS:
  • NC_000015.10:g.48494210A>G
  • NG_008805.2:g.156579T>C
  • NM_000138.5:c.2722T>CMANE SELECT
  • NP_000129.3:p.Cys908Arg
  • NP_000129.3:p.Cys908Arg
  • LRG_778t1:c.2722T>C
  • LRG_778:g.156579T>C
  • LRG_778p1:p.Cys908Arg
  • NC_000015.9:g.48786407A>G
  • NM_000138.4:c.2722T>C
Protein change:
C908R
Links:
dbSNP: rs1060501021
NCBI 1000 Genomes Browser:
rs1060501021
Molecular consequence:
  • NM_000138.5:c.2722T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003195079GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Likely pathogenic
(May 23, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV003195079.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Affects a cysteine residue within a TGF-binding protein domain (aka TB domain or 8-Cysteine domain) and is expected to disrupt disulfide bonding within this domain; other missense substitutions that affect cysteine residues within this TGF-binding protein domain have been reported in association with various FBN1-related phenotypes, including Marfan syndrome (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in individuals with ectopia lentis with or without additional Marfanoid features (PMID: 34281902, 19353630, 24698609); This variant is associated with the following publications: (PMID: 12203987, 18310266, 12203992, 34550612, 34818515, 32679894, 34281902, 19293843, 28941062, 19353630, 24698609, 35058154)

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

Last Updated: Sep 29, 2024