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NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg) AND Ectopia lentis 1, isolated, autosomal dominant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 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:
RCV002283533.1

Allele description [Variation Report for NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)]

NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg)

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.1708T>C (p.Cys570Arg)
Other names:
NM_000138.5(FBN1):c.1708T>C; p.Cys570Arg
HGVS:
  • NC_000015.10:g.48510050A>G
  • NG_008805.2:g.140739T>C
  • NM_000138.5:c.1708T>CMANE SELECT
  • NP_000129.3:p.Cys570Arg
  • LRG_778t1:c.1708T>C
  • LRG_778:g.140739T>C
  • NC_000015.9:g.48802247A>G
  • NM_000138.4:c.1708T>C
Protein change:
C570R
Links:
dbSNP: rs113902534
NCBI 1000 Genomes Browser:
rs113902534
Molecular consequence:
  • NM_000138.5:c.1708T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Ectopia lentis 1, isolated, autosomal dominant (ECTOL1)
Identifiers:
MONDO: MONDO:0007514; MedGen: C3541518; Orphanet: 1885; OMIM: 129600

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV0025725923billion
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 1, 2022) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

Loeys B, Nuytinck L, Delvaux I, De Bie S, De Paepe A.

Arch Intern Med. 2001 Nov 12;161(20):2447-54.

PubMed [citation]
PMID:
11700157

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.

Schrijver I, Liu W, Brenn T, Furthmayr H, Francke U.

Am J Hum Genet. 1999 Oct;65(4):1007-20.

PubMed [citation]
PMID:
10486319
PMCID:
PMC1288233
See all PubMed Citations (5)

Details of each submission

From 3billion, SCV002572592.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)

Description

The variant is not observed in the gnomAD v2.1.1 dataset. Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 29875124). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.98; 3Cnet: NA). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with FBN1-related disorder (ClinVar ID: VCV000956400 / PMID: 10486319). Different missense changes at the same codon (p.Cys570Gly, p.Cys570Ser, p.Cys570Trp, p.Cys570Tyr) have been reported to be associated with FBN1-related disorder (ClinVar ID: VCV000549035 , VCV000575196 / PMID: 11700157 , 21907952 , 28944857). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024